Whole genome sequencing

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risks. Hence, there are important questions about what obligations, if any, are owed to the family members of the individuals who are undergoing genetic testing. In Western/European society, tested individuals are usually encouraged to share important information on any genetic diagnoses with their close relatives, since the importance of the genetic diagnosis for offspring and other close relatives is usually one of the reasons for seeking a genetic testing in the first place. Nevertheless, a major ethical dilemma can develop when the patients refuse to share information on a diagnosis that is made for serious genetic disorder that is highly preventable and where there is a high risk to relatives carrying the same disease mutation. Under such circumstances, the clinician may suspect that the relatives would rather know of the diagnosis and hence the clinician can face a conflict of interest with respect to patient-doctor confidentiality.

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hospital from July 2016-March 2017, forty-two families received rWGS for etiologic diagnosis of genetic disorders. The diagnostic sensitivity of rWGS was 43% (eighteen of 42 infants) and 10% (four of 42 infants) for standard genetic tests (P = .0005). The rate of clinical utility of rWGS (31%, thirteen of 42 infants) was significantly greater than for standard genetic tests (2%, one of 42; P = .0015). Eleven (26%) infants with diagnostic rWGS avoided morbidity, one had a 43% reduction in likelihood of mortality, and one started palliative care. In six of the eleven infants, the changes in management reduced inpatient cost by $ 800,000-$ 2,000,000. The findings replicated a prior study of the clinical utility of rWGS in acutely ill inpatient infants, and demonstrated improved outcomes, net healthcare savings and consideration as a first tier test in this setting.

658: 865:. This frequency can further depend on patient age, exposure to DNA damaging agents (such as UV-irradiation or components of tobacco smoke) and the activity/inactivity of DNA repair mechanisms. Furthermore, mutation frequency can vary between cancer types: in germline cells, mutation rates occur at approximately 0.023 mutations per megabase, but this number is much higher in breast cancer (1.18-1.66 somatic mutations per Mb), in lung cancer (17.7) or in melanomas (≈33). Since the haploid human genome consists of approximately 3,200 megabases, this translates into about 74 mutations (mostly in 49: 548:. As sequencing projects began to take on longer and more complicated genomes, multiple groups began to realize that useful information could be obtained by sequencing both ends of a fragment of DNA. Although sequencing both ends of the same fragment and keeping track of the paired data was more cumbersome than sequencing a single end of two distinct fragments, the knowledge that the two sequences were oriented in opposite directions and were about the length of a fragment apart from each other was valuable in reconstructing the sequence of the original target fragment. 1137:

to locus specific databases, patients might still be identifiable by their relatives in the case of finding a rare disease or a rare missense mutation. Public discussion around the introduction of advanced forensic techniques (such as advanced familial searching using public DNA ancestry websites and DNA phenotyping approaches) has been limited, disjointed, and unfocused. As forensic genetics and medical genetics converge toward genome sequencing, issues surrounding genetic data become increasingly connected, and additional legal protections may need to be established.

194: 529: 178: 221: 150: 8338: 7914: 7944: 497:. This has important advantages in environmental microbiology in cases where a single cell of a particular microorganism species can be isolated from a mixed population by microscopy on the basis of its morphological or other distinguishing characteristics. In such cases the normally necessary steps of isolation and growth of the organism in culture may be omitted, thus allowing the sequencing of a much greater spectrum of organism genomes. 7954: 8758: 7934: 7924: 38: 164: 133:, which only determines the likelihood that genetic material came from a particular individual or group, and does not contain additional information on genetic relationships, origin or susceptibility to specific diseases. In addition, whole genome sequencing should not be confused with methods that sequence specific subsets of the genome – such methods include 4814:; Dewey, FE; Dudley, JT; Ormond, KE; Pavlovic, A; Morgan, AA; Pushkarev, D; Neff, NF; Hudgins, L; Gong, L; Hodges, LM; Berlin, DS; Thorn, CF; Sangkuhl, K; Hebert, JM; Woon, M; Sagreiya, H; Whaley, R; Knowles, JW; Chou, MF; Thakuria, JV; Rosenbaum, AM; Zaranek, AW; Church, GM; Greely, HT; Quake, SR; Altman, RB (1 May 2010). 4892:

Joan M.; Capriotti, Emidio; David, Sean P.; Pavlovic, Aleksandra; West, Anne; Thakuria, Joseph V.; Ball, Madeleine P.; Zaranek, Alexander W.; Rehm, Heidi L.; Church, George M.; West, John S.; Bustamante, Carlos D.; Snyder, Michael; Altman, Russ B.; Klein, Teri E.; Butte, Atul J.; Ashley, Euan A. (15 September 2011).

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Ley TJ; Mardis ER; Ding L; Fulton B; McLellan MD; Chen K; Dooling D; Dunford-Shore BH; McGrath S; Hickenbotham M; Cook L; Abbott R; Larson DE; Koboldt DC; Pohl C; Smith S; Hawkins A; Abbott S; Locke D; Hillier LW; Miner T; Fulton L; Magrini V; Wylie T; Glasscock J; Conyers J; Sander N; Shi X; Osborne

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Made available through a Web platform in November 2021, it is the largest public dataset of whole genomes. The genomes are linked to anonymized medical information and are made more accessible for biomedical research than prior, less comprehensive datasets. 300,000 more genomes were released in early

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help to prioritize rare functional variants, and incorporating these annotations can effectively boost the power of genetic association of rare variants analysis of whole genome sequencing studies. Some tools have been specifically developed to provide all-in-one rare variant association analysis for

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performed clinical interpretation of a full human genome, that of bioengineer Stephen Quake. In 2010, Ashley's team reported whole genome molecular autopsy and in 2011, extended the interpretation framework to a fully sequenced family, the West family, who were the first family to be sequenced on the

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Ye K; Beekman M; Lameijer EW; Zhang Y; Moed MH; van den Akker EB; Deelen J; Houwing-Duistermaat JJ; Kremer D; Anvar SY; Laros JF; Jones D; Raine K; Blackburne B; Potluri S; Long Q; Guryev V; van der Breggen R; Westendorp RG; 't Hoen PA; den Dunnen J; van Ommen GJ; Willemsen G; Pitts SJ; Cox DR; Ning

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sequence of an individual organism's DNA at a single point in time. However, further analysis must be performed to provide the biological or medical meaning of this sequence, such as how this knowledge can be used to help prevent disease. Methods for analyzing sequencing data are being developed and

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Holm, Ingrid A.; Agrawal, Pankaj B.; Ceyhan-Birsoy, Ozge; Christensen, Kurt D.; Fayer, Shawn; Frankel, Leslie A.; Genetti, Casie A.; Krier, Joel B.; Lamay, Rebecca C.; Levy, Harvey L.; McGuire, Amy L.; Parad, Richard B.; Park, Peter J.; Pereira, Stacey; Rehm, Heidi L.; Schwartz, Talia S.; Waisbren,

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Privacy concerns can also arise when whole genome sequencing is used in scientific research studies. Researchers often need to put information on patient's genotypes and phenotypes into public scientific databases, such as locus specific databases. Although only anonymous patient data are submitted

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In May 2011, Illumina lowered its Full Genome Sequencing service to $ 5,000 per human genome, or $ 4,000 if ordering 50 or more. Helicos Biosciences, Pacific Biosciences, Complete Genomics, Illumina, Sequenom, ION Torrent Systems, Halcyon Molecular, NABsys, IBM, and GE Global appear to all be going

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for Genomics, intending to award $ 10 million to "the first team that can build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 1,000,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and

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Wang J; Wang, Wei; Li, Ruiqiang; Li, Yingrui; Tian, Geng; Goodman, Laurie; Fan, Wei; Zhang, Junqing; Li, Jun; Zhang, Juanbin, Juanbin; Guo, Yiran, Yiran; Feng, Binxiao, Binxiao; Li, Heng, Heng; Lu, Yao, Yao; Fang, Xiaodong, Xiaodong; Liang, Huiqing, Huiqing; Du, Zhenglin, Zhenglin; Li, Dong, Dong;

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Dewey, Frederick E.; Chen, Rong; Cordero, Sergio P.; Ormond, Kelly E.; Caleshu, Colleen; Karczewski, Konrad J.; Whirl-Carrillo, Michelle; Wheeler, Matthew T.; Dudley, Joel T.; Byrnes, Jake K.; Cornejo, Omar E.; Knowles, Joshua W.; Woon, Mark; Sangkuhl, Katrin; Gong, Li; Thorn, Caroline F.; Hebert,

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Fiers, W.; Contreras, R.; Duerinck, F.; Haegeman, G.; Iserentant, D.; Merregaert, J.; Min Jou, W.; Molemans, F.; Raeymaekers, A.; Van den Berghe, A.; Volckaert, G.; Ysebaert, M. (8 April 1976). "Complete nucleotide sequence of bacteriophage MS2 RNA: primary and secondary structure of the replicase

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When an individual undergoes whole genome sequencing, they reveal information about not only their own DNA sequences, but also about probable DNA sequences of their close genetic relatives. This information can further reveal useful predictive information about relatives' present and future health

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Nones, K; Waddell, N; Wayte, N; Patch, AM; Bailey, P; Newell, F; Holmes, O; Fink, JL; Quinn, MC; Tang, YH; Lampe, G; Quek, K; Loffler, KA; Manning, S; Idrisoglu, S; Miller, D; Xu, Q; Waddell, N; Wilson, PJ; Bruxner, TJ; Christ, AN; Harliwong, I; Nourse, C; Nourbakhsh, E; Anderson, M; Kazakoff, S;

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frequency for whole human genomes. The mutation frequency in the whole genome between generations for humans (parent to child) is about 70 new mutations per generation. An even lower level of variation was found comparing whole genome sequencing in blood cells for a pair of monozygotic (identical

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locus, although the use of paired ends was limited to closing gaps after the application of a traditional shotgun sequencing approach. The first theoretical description of a pure pairwise end sequencing strategy, assuming fragments of constant length, was in 1991. In 1995, the innovation of using

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patterns in the evolution of cancer. It can also help in the selection of individualized treatments for patients suffering from this pathology and observe how existing drugs are working during the progression of treatment. Deep whole genome sequencing involves a subclonal reconstruction based on

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Meta-analysis of whole genome sequencing studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with complex phenotypes. Some methods have been developed to enable functionally informed rare variant association analysis in

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USD, which was billed to the patient but usually paid for out of a research grant; one person at that time had applied for reimbursement from their insurance company. For example, one child had needed around 100 surgeries by the time he was three years old, and his doctor turned to whole genome

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Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME,

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Fleischmann RD; Adams MD; White O; Clayton RA; Kirkness EF; Kerlavage AR; Bult CJ; Tomb JF; Dougherty BA; Merrick JM; McKenney; Sutton; Fitzhugh; Fields; Gocyne; Scott; Shirley; Liu; Glodek; Kelley; Weidman; Phillips; Spriggs; Hedblom; Cotton; Utterback; Hanna; Nguyen; Saudek; et al. (July

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determined that rapid whole-genome sequencing (rWGS) could diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. In a retrospective cohort study of acutely ill inpatient infants in a regional children's

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Farnaes, Lauge; Hildreth, Amber; Sweeney, Nathaly M.; Clark, Michelle M.; Chowdhury, Shimul; Nahas, Shareef; Cakici, Julie A.; Benson, Wendy; Kaplan, Robert H.; Kronick, Richard; Bainbridge, Matthew N.; Friedman, Jennifer; Gold, Jeffrey J.; Ding, Yan; Veeraraghavan, Narayanan; Dimmock, David;

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The introduction of whole genome sequencing may have ethical implications. On one hand, genetic testing can potentially diagnose preventable diseases, both in the individual undergoing genetic testing and in their relatives. On the other hand, genetic testing has potential downsides such as

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For humans, DNA arrays currently provide genotypic information on up to one million genetic variants, while full genome sequencing will provide information on all six billion bases in the human genome, or 3,000 times more data. Because of this, full genome sequencing is considered a

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was among the first 20 people to have their whole genome sequenced, reportedly for the cost of $ 100,000. As of June 2012, there were 69 nearly complete human genomes publicly available. In November 2013, a Spanish family made their personal genomics data publicly available under a

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Wheeler DA; Srinivasan M; Egholm M; Shen Y; Chen L; McGuire A; He W; Chen YJ; Makhijani V; Roth GT; Gomes X; Tartaro K; Niazi F; Turcotte CL; Irzyk GP; Lupski JR; Chinault C; Song XZ; Liu Y; Yuan Y; Nazareth L; Qin X; Muzny DM; Margulies M; Weinstock GM; Gibbs RA; Rothberg JM (2008).

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undergo genetic testing. Illumina's CEO, Jay Flatley, wrongly claimed in February 2009 that "by 2019 it will have become routine to map infants' genes when they are born". This potential use of genome sequencing is highly controversial, as it runs counter to established

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Due to recent cost reductions (see above) whole genome sequencing has become a realistic application in DNA diagnostics. In 2013, the 3Gb-TEST consortium obtained funding from the European Union to prepare the health care system for these innovations in DNA diagnostics.

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The distribution of somatic mutations across the human genome is very uneven, such that the gene-rich, early-replicating regions receive fewer mutations than gene-poor, late-replicating heterochromatin, likely due to differential DNA repair activity. In particular, the

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Sevim, Volkan; Lee, Juna; Egan, Robert; Clum, Alicia; Hundley, Hope; Lee, Janey; Everroad, R. Craig; Detweiler, Angela M.; Bebout, Brad M.; Pett-Ridge, Jennifer; Göker, Markus; Murray, Alison E.; Lindemann, Stephen R.; Klenk, Hans-Peter; O'Malley, Ronan (2019-11-26).

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Herberts, Cameron; Annala, Matti; Sipola, Joonatan; Ng, Sarah W. S.; Chen, Xinyi E.; Nurminen, Anssi; Korhonen, Olga V.; Munzur, Aslı D.; Beja, Kevin; Schönlau, Elena; Bernales, Cecily Q.; Ritch, Elie; Bacon, Jack V. W.; Lack, Nathan A.; Nykter, Matti (August 2022).

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Yano, K; Yamamoto, E; Aya, K; Takeuchi, H; Lo, PC; Hu, L; Yamasaki, M; Yoshida, S; Kitano, H; Hirano, K; Matsuoka, M (August 2016). "Genome-wide association study using whole-genome sequencing rapidly identifies new genes influencing agronomic traits in rice".

1129:. The traditional guidelines for genetic testing have been developed over the course of several decades since it first became possible to test for genetic markers associated with disease, prior to the advent of cost-effective, comprehensive genetic screening. 835:

to the DNA array markets as the accuracy of both range from 99.98% to 99.999% (in non-repetitive DNA regions) and their consumables cost of $ 5000 per 6 billion base pairs is competitive (for some applications) with DNA arrays ($ 500 per 1 million basepairs).

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Dewey, Frederick E.; Wheeler, Matthew T.; Cordero, Sergio; Perez, Marco V.; Pavlovic, Aleks; Pushkarev, Dmitry; Freeman, James V.; Quake, Steve R.; Ashley, Euan A. (April 2011). "Molecular Autopsy for Sudden Cardiac Death Using Whole Genome Sequencing".

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have to be in place. The 3Gb-TEST consortium has identified the analysis and interpretation of sequence data as the most complicated step in the diagnostic process. At the Consortium meeting in Athens in September 2014, the Consortium coined the word

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Zhao, Yiqing, Yiqing; Hu, Yujie, Yujie; Yang, Zhenzhen, Zhenzhen; Zheng, Hancheng, Hancheng; Hellmann, Ines, Ines; Inouye, Michael, Michael; Pool, John, John; Yi, Xin, Xin; Zhao, Jing, Jing; Duan, Jinjie, Jinjie; Zhou, Yan, Yan; et al. (2008).

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In 2023, the Lancet opined that in the UK "focusing on improving screening by upgrading targeted gene panels might be more sensible in the short term. Whole genome sequencing in the long term deserves thorough examination and universal caution."

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While capillary sequencing was the first approach to successfully sequence a nearly full human genome, it is still too expensive and takes too long for commercial purposes. Since 2005, capillary sequencing has been progressively displaced by

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Leonard, C; Wood, S; Simpson, PT; Reid, LE; Krause, L; Hussey, DJ; Watson, DI; Lord, RV; Nancarrow, D; Phillips, WA; Gotley, D; Smithers, BM; Whiteman, DC; Hayward, NK; Campbell, PJ; Pearson, JV; Grimmond, SM; Barbour, AP (29 October 2014).

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Goffeau, A.; Barrell, B. G.; Bussey, H.; Davis, R. W.; Dujon, B.; Feldmann, H.; Galibert, F.; Hoheisel, J. D.; Jacq, C.; Johnston, M.; Louis, E. J.; Mewes, H. W.; Murakami, Y.; Philippsen, P.; Tettelin, H.; Oliver, S. G. (25 October 1996).

1023:(MAF) < 1%) across the genome. Single-variant analyses typically have low power to identify associations with rare variants, and variant set tests have been proposed to jointly test the effects of given sets of multiple rare variants. 250:. Several whole bacteriophage and animal viral genomes were sequenced by these techniques, but the shift to more rapid, automated sequencing methods in the 1990s facilitated the sequencing of the larger bacterial and eukaryotic genomes. 857:

In the specifically protein coding regions of the human genome, it is estimated that there are about 0.35 mutations that would change the protein sequence between parent/child generations (less than one mutated protein per generation).

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Fleischmann, R.; Adams, M.; White, O; Clayton, R.; Kirkness, E.; Kerlavage, A.; Bult, C.; Tomb, J.; Dougherty, B.; Merrick, J.; al., e. (28 July 1995). "Whole-genome random sequencing and assembly of Haemophilus influenzae Rd".

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Boccia S, Mc Kee M, Adany R, Boffetta P, Burton H, Cambon-Thomsen A, Cornel MC, Gray M, Jani A, Knoppers BM, Khoury MJ, Meslin EM, Van Duijn CM, Villari P, Zimmern R, Cesario A, Puggina A, Colotto M, Ricciardi W (August 2014).

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began selling whole genome sequencing, including a report as to some of the information in the sequencing for $ 999. In summer 2019, Veritas Genetics cut the cost for WGS to $ 599. In 2017, BGI began offering WGS for $ 600.

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However, in 2015, some noted that effective use of whole gene sequencing can cost considerably more than $ 1000. Also, reportedly there remain parts of the human genome that have not been fully sequenced by 2017.

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In 2021, the NIH funded BabySeq2, an implementation study that expanded the BabySeq project, enrolling 500 infants from diverse families and track the effects of their genomic sequencing on their pediatric care.

3101: 984:, had previously led the REVEAL study — Risk EValuation and Education for Alzheimer's Disease – a series of clinical trials exploring patient reactions to the knowledge of their genetic risk for Alzheimer's. 1699:

van El, CG; Cornel, MC; Borry, P; Hastings, RJ; Fellmann, F; Hodgson, SV; Howard, HC; Cambon-Thomsen, A; Knoppers, BM; Meijers-Heijboer, H; Scheffer, H; Tranebjaerg, L; Dondorp, W; de Wert, GM (June 2013).

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In research, whole-genome sequencing can be used in a Genome-Wide Association Study (GWAS) – a project aiming to determine the genetic variant or variants associated with a disease or some other phenotype.

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In 2013, Green and a team of researchers launched the BabySeq Project to study the ethical and medical consequences of sequencing a newborn's DNA. As of 2015, whole genome and exome sequencing as a

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In this field, whole genome sequencing represents a great set of improvements and challenges to be faced by the scientific community, as it makes it possible to analyze, quantify and characterize

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A number of public and private companies are competing to develop a full genome sequencing platform that is commercially robust for both research and clinical use, including Illumina,

5156: 774:, stated that using the company's Single Molecule Sequencer he sequenced his own full genome for less than $ 50,000. In November, Complete Genomics published a peer-reviewed paper in 3266: 616:. Though the sequencing accuracy of Nanopore technology is lower than those above, its read length is on average much longer. This generation of long reads is valuable especially in 556:

fragments of varying sizes was introduced, and demonstrated that a pure pairwise end-sequencing strategy would be possible on large targets. The strategy was subsequently adopted by

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Edwards A; Voss H; Rice P; Civitello A; Stegemann J; Schwager C; Zimmermann J; Erfle H; Caskey CT; Ansorge W (April 1990). "Automated DNA sequencing of the human HPRT locus".

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Li, Xihao; Quick, Corbin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; Chen, Han; Selvaraj, Margaret Sunitha; Sun, Ryan; Dey, Rounak; Arnett, Donna K. (January 2023).

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by 1976. In 1992, yeast chromosome III was the first chromosome of any organism to be fully sequenced. The first organism whose entire genome was fully sequenced was

3576: 3291: 5342:"Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale" 854:

twins) 100-year-old centenarians. Only 8 somatic differences were found, though somatic variation occurring in less than 20% of blood cells would be undetected.

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regions) in germline DNA per generation, but 3,776-5,312 somatic mutations per haploid genome in breast cancer, 56,640 in lung cancer and 105,600 in melanomas.

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whole-genome sequencing data, including integration of genotype data and their functional annotations, association analysis, result summary and visualization.

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published an incomplete version of the human genome. In 2008, a group from Leiden, the Netherlands, reported the sequencing of the first female human genome (

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With sequencing costs declining, a number of companies began claiming that their equipment would soon achieve the $ 1,000 genome: these companies included

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in 1998. Eukaryotic genomes are sequenced by several methods including Shotgun sequencing of short DNA fragments and sequencing of larger DNA clones from

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began quietly using them to try to diagnose what was wrong with people whom standard approaches had failed to help. In 2009, a team from Stanford led by

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Schuster-Böckler, Benjamin; Lehner, Ben (August 2012). "Chromatin organization is a major influence on regional mutation rates in human cancer cells".

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The C. elegans Sequencing Consortium (11 December 1998). "Genome Sequence of the Nematode C. elegans: A Platform for Investigating Biology".

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Mustjoki S, Young NS. Somatic Mutations in "Benign" Disease. N Engl J Med. 2021 May 27;384(21):2039-2052. doi: 10.1056/NEJMra2101920. PMID: 34042390.

3312: 1212: 609:. All of these technologies continue to employ the basic shotgun strategy, namely, parallelization and template generation via genome fragmentation. 4148: 3988: 3381: 2642: 6267: 4225: 3638: 8492: 8374: 6027: 3209: 6788:

Corpas M, Cariaso M, Coletta A, Weiss D, Harrison AP, Moran F, Yang H (November 12, 2013). "A Complete Public Domain Family Genomics Dataset".

4514: 3854: 3718: 3237: 3132: 552: 5682:"Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes" 4017: 3133:"Article : Race to Cut Whole Genome Sequencing Costs Genetic Engineering & Biotechnology News — Biotechnology from Bench to Business" 6934: 1933:

Oliver, S. G.; van der Aart, Q. J. M.; Agostoni-Carbone, M. L.; et al. (May 1992). "The complete DNA sequence of yeast chromosome III".

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Yurkiewicz, I. R.; Korf, B. R.; Lehmann, L. S. (2014). "Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical?".

786: 575: 425:– was also fully sequenced by 2000. By 2001, a draft of the entire human genome sequence was published. The genome of the laboratory mouse 6961: 3238:"Article : Whole Genome Sequencing in 24 Hours Genetic Engineering & Biotechnology News — Biotechnology from Bench to Business" 640:

in each human diploid genome), its output is stored electronically and requires a large amount of computing power and storage capacity.

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Hodgkinson, Alan; Chen, Ying; Eyre-Walker, Adam (January 2012). "The large-scale distribution of somatic mutations in cancer genomes".

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Howard, Heidi Carmen; Knoppers, Bartha Maria; Cornel, Martina C.; Wright Clayton, Ellen; Sénécal, Karine; Borry, Pascal (2015-01-28).

4359:"Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs" 1105:

Some ethicists insist that the privacy of individuals undergoing genetic testing must be protected, and is of particular concern when

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experts, three sequencing technicians, five physicians, two genetic counsellors and two ethicists to identify a rare mutation in the

6465: 4951: 3903: 9007: 6911: 6341: 4226:"Illumina, DeCode Build 1M SNP Chip; Q2 Launch to Coincide with Release of Affy's 6.0 SNP Array | BioArray News | Arrays" 1555: 662: 6748: 3530: 2807:

Roach JC; Boysen C; Wang K; Hood L (March 1995). "Pairwise end sequencing: a unified approach to genomic mapping and sequencing".

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was created in 2011 to examine the integration of genomic sequencing into clinical care of adults and children. G2P's director,

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Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014. In the future of

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started selling a new type of sequencer called SOLiD System. The technology allowed users to sequence 60 gigabases per run.

8418: 8181: 7683: 5118: 3877:"Life Technologies Introduces the Benchtop Ion Proton™ Sequencer; Designed to Decode a Human Genome in One Day for $ 1,000" 3338:"Whole genome sequencing costs continue to fall: $ 300 million in 2003, $ 1 million 2007, $ 60,000 now, $ 5000 by year end" 1489: 1015:

Whole genome sequencing studies enable the assessment of associations between complex traits and both coding and noncoding

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released its first whole genome sequencers that were approved for clinical as opposed to research-only use and doctors at

8701: 8367: 8025: 3568: 1484: 5739:"The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health" 544:) genomes was already in use in 1979, broader application benefited from pairwise end sequencing, known colloquially as 8196: 7990: 7819: 7161: 3287: 1479: 557: 8782: 4042: 3157: 2082:

Pellicer, Jaume; FAY, Michael F.; Leitch, Ilia J. (15 September 2010). "The largest eukaryotic genome of them all?".

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The genome sequence of a single cell selected from a mixed population of cells can be determined using techniques of

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Alberts, Bruce; Johnson, Alexander; Lewis, Julian; Raff, Martin; Roberts, Keith; Walter, Peter (2008). "Chapter 8".

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In June 2009, Illumina announced that they were launching their own Personal Full Genome Sequencing Service at a

578:, manufactured the automated capillary sequencers utilized by both Celera Genomics and The Human Genome Project. 6173:"Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers" 6087:

Nelson RM; Botkjin JR; Kodish ED; et al. (June 2001). "Ethical issues with genetic testing in pediatrics".

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McCabe LL; McCabe ER (June 2001). "Postgenomic medicine. Presymptomatic testing for prediction and prevention".

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An ABI PRISM 3100 genetic analyzer. Such capillary sequencers automated the early efforts of sequencing genomes.

8360: 7937: 7809: 7243: 7128: 115: 5391:"A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies" 5260:"Are whole Exome and whole Genome Sequencing Approaches Cost-Effective? A Systematic Review of the Literature" 8936: 8762: 8728: 7087: 2980:"Shotgun metagenome data of a defined mock community using Oxford Nanopore, PacBio and Illumina technologies" 1266: 890: 551:

The first published description of the use of paired ends was in 1990 as part of the sequencing of the human

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Adams MD; Celniker SE; Holt RA; et al. (2000-03-24). "The Genome Sequence of Drosophila melanogaster".

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Ayday E; De Cristofaro E; Hubaux JP; Tsudik G (2015). "The Chills and Thrills of Whole Genome Sequencing".

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While analysis of WGS data can be slow, it is possible to speed up this step by using dedicated hardware.

9144: 8875: 7433: 5179:"Risk Evaluation and Education for Alzheimer's Disease (REVEAL) II – Full Text View – ClinicalTrials.gov" 5149:"The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study – HBHE Genetics Research Group" 4152: 3980: 3659: 1504: 1317: 988: 6281:

Curtis, Caitlin; Hereward, James; Mangelsdorf, Marie; Hussey, Karen; Devereux, John (18 December 2018).

4130: 9104: 9073: 8733: 8669: 8030: 7413: 6947: 4069:"Is the "$ 1000 Genome" Really $ 1000? Understanding the Full Benefits and Costs of Genomic Sequencing" 3934: 3634: 1208: 1044:(ctDNA) in the bloodstream. This serves as a basis for early cancer diagnosis, treatment selection and 705: 594: 446: 6031: 5905:

Sijmons, R.H.; Van Langen, I.M (2011). "A clinical perspective on ethical issues in genetic testing".

3213: 1354:

sequence by this definition is very expensive. Thus, most human "whole genome sequencing" results are

9134: 8716: 8676: 8186: 8171: 7842: 1580:

Gilissen (July 2014). "Genome sequencing identifies major causes of severe intellectual disability".

1196: 536:

Sequencing of nearly an entire human genome was first accomplished in 2000 partly through the use of

110:, whole genome sequence data may be an important tool to guide therapeutic intervention. The tool of 4689:"Clustered Mutation Signatures Reveal that Error-Prone DNA Repair Targets Mutations to Active Genes" 4506: 4003:"With $ 999 Whole-Genome Sequencing Service, Veritas Embarks on Goal to Democratize DNA Information" 3241: 3136: 2908: 2360: 8805: 8411: 8191: 8010: 7634: 7556: 7551: 7471: 7231: 1702:"Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics" 823:

Full genome sequencing provides information on a genome that is orders of magnitude larger than by

336: 3504: 462:

Almost any biological sample containing a full copy of the DNA—even a very small amount of DNA or

9124: 9109: 8928: 8681: 8654: 7614: 7588: 7015: 5446:"STAARpipeline: an all-in-one rare-variant tool for biobank-scale whole-genome sequencing data". 1449: 1423: 1289: 1016: 999:

A 2018 review of 36 publications found the cost for whole genome sequencing to range from $ 1,906

923: 598: 466:—can provide the genetic material necessary for full genome sequencing. Such samples may include 411: 235: 182: 9114: 9082: 9032: 8691: 8686: 8659: 8543: 7983: 7206: 7154: 5979:"Genetic testing in asymptomatic minors Background considerations towards ESHG Recommendations" 5977:

Borry, Pascal; Evers-Kiebooms, Gerry; Cornel, Martha C.; Clarke, Angus; Dierickx, Kris (2009).

4175:"Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals" 2903: 2355: 1403: 1398: 1302: 1095: 1020: 977: 562: 505: 374: 259: 169: 155: 134: 8919: 4894:"Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence" 4173:

Nishida N; Koike A; Tajima A; Ogasawara Y; Ishibashi Y; Uehara Y; Inoue I; Tokunaga K (2008).

1331:

and accuracy, whole genome sequencing can broadly be classified into either of the following:

1007:

USD and have a wide variance in diagnostic yield from 17% to 73% depending on patient groups.

8617: 8526: 8521: 8398: 8383: 8318: 8152: 8117: 7857: 7743: 7716: 7689: 7641: 7595: 7290: 7051: 6492: 6261: 5737:

Woerner, Audrey C.; Gallagher, Renata C.; Vockley, Jerry; Adhikari, Aashish N. (2021-07-19).

2440:

Venter JC; Adams MD; Myers EW; et al. (2001-02-16). "The Sequence of the Human Genome".

1444: 1413: 1041: 832: 657: 636:

Because sequencing generates a lot of data (for example, there are approximately six billion

107: 61: 4787:

Borrell, Brendan (14 September 2010). "US clinics quietly embrace whole-genome sequencing".

4581:"Differential DNA mismatch repair underlies mutation rate variation across the human genome" 1644:"Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis" 126:, and hence may lay the foundation for predicting disease susceptibility and drug response. 27:

Determining nearly the entirety of the DNA sequence of an organism's genome at a single time

8988: 8980: 8945: 8664: 8627: 8607: 8217: 8035: 7877: 7837: 7704: 7518: 7513: 7493: 7428: 7280: 7123: 7113: 7061: 6789: 6703: 6645: 6588: 6538: 6376: 5914: 5560: 4645: 4592: 4263: 4116: 4018:"23andMe competitor Veritas Genetics slashes price of whole genome sequencing 40% to $ 600" 3792: 3210:"Sequenom to Develop Third-Generation Nanopore-Based Single Molecule Sequencing Technology" 2991: 2895: 2852: 2643:"Single-cell Sequencing Makes Strides in the Clinic with Cancer and PGD First Applications" 2594: 2545: 2496: 2449: 2404: 2347: 2302: 2230: 2172: 2122: 2046: 1999: 1942: 1891: 1820: 1655: 1589: 1418: 874: 570:

to sequence the entire fruit fly genome in 2000, and subsequently the entire human genome.

435: 421: 198: 123: 48: 5610: 3102:"New Genetic Technologies Diagnose Critically Ill Infants Within 26 Hours – IEEE Spectrum" 8: 9139: 9023: 8999: 8721: 8696: 8465: 8297: 8287: 8247: 8147: 8127: 8020: 8015: 7957: 7899: 7882: 7541: 7258: 7056: 7030: 7005: 6989: 6469: 6331: 4943: 3710: 3685:"Illumina launches personal genome sequencing service for $ 48,000 : Genetic Future" 1439: 1368: 1328: 1159: 1151: 1099: 936:

sequencing to determine the problem; it took a team of around 30 people that included 12

909: 709: 685: 613: 513: 119: 6707: 6649: 6592: 6542: 6380: 5918: 5564: 5515: 5490: 5415: 5390: 4649: 4596: 4267: 3796: 2995: 2899: 2856: 2598: 2549: 2500: 2453: 2408: 2351: 2306: 2234: 2176: 2126: 2050: 2003: 1946: 1895: 1824: 1659: 1593: 742:, working in collaboration with the J. Craig Venter Science Foundation, established the 177: 9011: 8738: 8558: 8548: 8536: 8460: 8257: 8142: 8137: 8112: 7847: 7804: 7794: 7583: 7536: 7503: 7498: 7248: 7226: 6724: 6691: 6666: 6633: 6609: 6576: 6497: 6441: 6414: 6336: 6307: 6282: 6244: 6219: 6200: 6112: 6003: 5978: 5957: 5938: 5825: 5773: 5738: 5714: 5681: 5657: 5630: 5592: 5528: 5471: 5428: 5366: 5341: 5317: 5292: 5235: 5210: 5066: 5041: 5003: 4920: 4893: 4840: 4815: 4764: 4669: 4613: 4580: 4561: 4482: 4457: 4424: 4399: 4333: 4308: 4284: 4251: 4201: 4174: 4093: 4068: 3962: 3818: 3077: 3044: 3020: 2979: 2196: 1966: 1915: 1775: 1750: 1726: 1701: 1676: 1643: 1623: 1126: 949: 919: 862: 794: 760: 739: 689: 571: 537: 331: 193: 6065: 5860: 5211:"Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization" 4877: 4831: 3781:"Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays" 3366: 2758: 2722: 2697: 2617: 2582: 1150:

The first nearly complete human genomes sequenced were two Americans of predominantly

9119: 8817: 8565: 8553: 8531: 8514: 8341: 8272: 8262: 8252: 8086: 7976: 7943: 7917: 7799: 7769: 7748: 7711: 7694: 7609: 7573: 7563: 7458: 7378: 7322: 7285: 7270: 7211: 7178: 7147: 7010: 6970: 6884: 6864: 6729: 6671: 6614: 6556: 6446: 6394: 6312: 6249: 6192: 6188: 6172: 6153: 6104: 6069: 6008: 5930: 5872: 5864: 5829: 5817: 5813: 5778: 5760: 5719: 5701: 5662: 5596: 5584: 5576: 5548: 5532: 5520: 5475: 5463: 5432: 5420: 5371: 5322: 5240: 5071: 5021: 4995: 4925: 4845: 4756: 4720: 4673: 4661: 4618: 4553: 4487: 4429: 4380: 4338: 4289: 4206: 4098: 3966: 3810: 3759: 3082: 3064: 3025: 3007: 2959: 2921: 2868: 2824: 2820: 2789: 2785: 2727: 2678: 2622: 2563: 2514: 2465: 2422: 2373: 2320: 2269: 2246: 2188: 2140: 2095: 2064: 2015: 1958: 1907: 1861: 1838: 1780: 1731: 1681: 1627: 1615: 1535: 1388: 1225: 1074: 957: 905: 730:

USD, however, the private companies are working to reach a new target of only $ 100.

723:

A commonly-referenced commercial target for sequencing cost until the late 2010s was

681: 677: 379: 254: 247: 226: 96: 8774: 5942: 5007: 4768: 4565: 3822: 2200: 2160: 801:

estimated the cost of obtaining a whole-genome sequence at around $ 1,500. In 2016,

704:, Intelligent Bio-Systems, Life Technologies, Oxford Nanopore Technologies, and the 528: 9051: 8883: 8706: 8622: 8450: 8428: 8302: 8277: 7927: 7619: 7604: 7481: 7356: 7312: 7066: 7035: 6876: 6719: 6711: 6661: 6653: 6604: 6596: 6546: 6436: 6426: 6384: 6302: 6294: 6239: 6231: 6220:"Science and Society: Research ethics and the challenge of whole-genome sequencing" 6204: 6184: 6143: 6116: 6096: 6061: 5998: 5990: 5922: 5856: 5809: 5768: 5750: 5709: 5693: 5652: 5642: 5568: 5510: 5502: 5455: 5410: 5402: 5361: 5353: 5312: 5304: 5271: 5230: 5222: 5061: 5053: 4985: 4915: 4905: 4873: 4835: 4827: 4792: 4748: 4710: 4700: 4653: 4608: 4600: 4545: 4477: 4469: 4419: 4411: 4370: 4328: 4320: 4279: 4271: 4196: 4186: 4088: 4080: 4046: 3954: 3800: 3072: 3056: 3015: 2999: 2951: 2913: 2860: 2843:

1995). "Whole-genome random sequencing and assembly of Haemophilus influenzae Rd".

2816: 2781: 2754: 2717: 2709: 2670: 2612: 2602: 2553: 2504: 2457: 2412: 2365: 2310: 2238: 2180: 2130: 2091: 2054: 2007: 1970: 1950: 1919: 1899: 1828: 1770: 1762: 1721: 1713: 1671: 1663: 1605: 1597: 1428: 1408: 1393: 1285: 1122: 802: 767: 717: 693: 471: 41: 6132:"Carrier testing in minors: a systematic review of guidelines and position papers" 5291:

Lee, Seunggeung; Abecasis, Gonçalo R.; Boehnke, Michael; Lin, Xihong (July 2014).

5178: 3043:

Wang, Yunhao; Zhao, Yue; Bollas, Audrey; Wang, Yuru; Au, Kin Fai (November 2021).

2917: 2369: 2242: 1186:

patient in her mid-50s (at 33 and 14-fold coverage for tumor and normal tissues).

8954: 8575: 8477: 8438: 8162: 7947: 7892: 7753: 7738: 7721: 7661: 7656: 7600: 7578: 7275: 7221: 7201: 7097: 7020: 6431: 5926: 4990: 4973: 4910: 4473: 3508: 3404:"BGI Launches New Desktop Sequencer in China, Registers Larger Version With CFDA" 2886:

Adams, MD; et al. (2000). "The genome sequence of Drosophila melanogaster".

2184: 1179: 1163: 1155: 1118: 981: 567: 509: 439: 323:

however, their genome size far outweighs the genome size of individual bacteria.

296: 242:

The DNA sequencing methods used in the 1970s and 1980s were manual; for example,

5844: 4415: 4252:"Analysis of genetic inheritance in a family quartet by whole-genome sequencing" 2531: 1032:

biobank-scale cohorts using efficient approaches for summary statistic storage.

224:

It took 10 years and 50 scientists spanning the globe to sequence the genome of

8899: 8711: 8487: 8482: 8445: 8433: 8406: 8292: 8232: 8132: 7779: 7733: 7546: 7476: 7295: 6880: 6838:"Whole Genome Sequencing data on 200,000 UK Biobank participants available now" 5572: 5506: 5459: 5406: 5308: 5276: 5259: 4705: 4688: 4309:"Estimating the human mutation rate using autozygosity in a founder population" 3382:"BGI Launches Desktop Sequencer in China; Plans to Register Platform With CFDA" 3060: 1454: 1383: 1373: 1024: 937: 770:

of 30× for $ 48,000 per genome. In August, the founder of Helicos Biosciences,

748: 743: 724: 652: 602: 587: 345: 138: 111: 65: 31: 6634:"Accurate whole human genome sequencing using reversible terminator chemistry" 6298: 5798:"The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps" 5647: 5357: 5226: 5042:"Beyond public health genomics: proposals from an international working group" 3958: 3932:"Illumina Sequencer Enables $ 1,000 Genome". News: Genomics & Proteomics. 3431:"BGI Launches New Sequencer as Customers Report Data From Earlier Instruments" 3003: 2745:

Edwards, A; Caskey, T (1991). "Closure strategies for random DNA sequencing".

2059: 2034: 1766: 1192: 9098: 8871: 8839: 8743: 8509: 8455: 7862: 7651: 7646: 7508: 7448: 7351: 5868: 5764: 5755: 5705: 5580: 3068: 3011: 2393:"Analysis of the genome sequence of the flowering plant Arabidopsis thaliana" 1378: 1171: 1114: 866: 771: 483: 394: 280: 130: 83:) is the process of determining the entirety, or nearly the entirety, of the 6813:"200,000 whole genomes made available for biomedical studies by U.K. effort" 6771:"Complete Human Genome Sequencing Datasets to its Public Genomic Repository" 6148: 6131: 6100: 5057: 4275: 4191: 3805: 3780: 3531:"A Few Thoughts on Rapid Genome Sequencing and The Archon Prize — synthesis" 2864: 2607: 2461: 2011: 969:. Guidelines are needed to determine the required content of these reports. 220: 149: 9129: 8647: 8499: 8470: 8242: 8122: 7867: 7852: 7678: 7403: 7253: 7238: 7184: 6888: 6733: 6692:"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome" 6675: 6618: 6560: 6527:"The complete genome of an individual by massively parallel DNA sequencing" 6450: 6398: 6316: 6253: 6196: 6157: 6108: 6073: 6012: 5934: 5876: 5821: 5782: 5723: 5666: 5588: 5549:"Deep whole-genome ctDNA chronology of treatment-resistant prostate cancer" 5524: 5467: 5424: 5375: 5326: 5244: 5075: 4999: 4929: 4849: 4760: 4724: 4665: 4622: 4557: 4491: 4433: 4384: 4342: 4293: 4210: 4102: 3855:"NHGRI Awards More than $ 50M for Low-Cost DNA Sequencing Tech Development" 3814: 3313:"With New Machine, Helicos Brings Personal Genome Sequencing A Step Closer" 3086: 3029: 2963: 2925: 2713: 2682: 2626: 2567: 2518: 2469: 2426: 2377: 2324: 2144: 2068: 1842: 1784: 1735: 1685: 1619: 1053: 931:

Illumina platform. The price to sequence a genome at that time was $ 19,500

778:

demonstrating its ability to sequence a complete human genome for $ 1,700.

517: 427: 402: 291: 285: 212: 57: 5697: 4796: 3949:

Check Hayden, Erika (15 January 2014). "Is the $ 1,000 genome for real?".

2872: 2828: 2793: 2250: 2192: 2019: 1962: 1911: 1339:, covering approximately 90% of the genome at approximately 99.9% accuracy 234:). This genome was particularly difficult to sequence because it had many 8971: 8891: 8642: 8637: 8570: 8222: 7726: 7671: 7568: 7423: 7398: 7216: 5994: 5629:

Susan E.; Yu, Timothy W.; Green, Robert C.; Beggs, Alan H. (2018-07-09).

3904:"Oxford Nanopore Unveils Tiny DNA Sequencing Device – The New York Times" 2731: 2674: 1717: 1167: 1106: 1065:

profiling, showing the expression of circulating tumor DNA in each case.

927: 713: 475: 463: 415:– a popular choice of model organism in experimental research. The first 308: 276: 100: 92: 8352: 6715: 6657: 6600: 6551: 6526: 5293:"Rare-Variant Association Analysis: Study Designs and Statistical Tests" 5022:"Introducing diagnostic applications of '3Gb-testing' in human genetics" 4657: 4604: 4375: 4358: 3363:"Han Cao's nanofluidic chip could cut DNA sequencing costs dramatically" 2558: 2533: 2509: 2484: 2135: 2110: 1601: 1556:"Definition of whole-genome sequencing – NCI Dictionary of Cancer Terms" 1121:

of asymptomatic minors that have been well established in the fields of

30:"Genome sequencing" redirects here. For the sequencing only of DNA, see 9043: 9040: 8602: 8504: 8227: 8096: 8076: 8051: 7814: 7699: 7666: 7438: 7388: 7373: 7368: 7361: 7346: 7336: 5955: 4811: 4715: 4549: 4084: 3263:"Pacific Bio lifts the veil on its high-speed genome-sequencing effort" 2942:

Mukhopadhyay R (February 2009). "DNA sequencers: the next generation".

2841: 1932: 1667: 1610: 1346:, covering more than 95% of the genome at approximately 99.99% accuracy 1246: 1187: 1058: 1049: 697: 629: 353: 319:– note the exact size of the human genome is still being revised) than 312: 304: 272: 6171:

Borry P; Stultiens L; Nys H; Cassiman JJ; Dierickx K (November 2006).

6028:"Genetic mapping of babies by 2019 will transform preventive medicine" 2955: 1166:

at 7.4-fold). This was followed in 2008 by sequencing of an anonymous

540:

technology. While full genome shotgun sequencing for small (4000–7000

206: 153:

The first bacterial whole genome to be sequenced was of the bacterium

9060: 8910: 8855: 8632: 7887: 7629: 7624: 7488: 7466: 7341: 7305: 7092: 6129: 2417: 2392: 2109:

Human Genome Sequencing Consortium, International (21 October 2004).

1954: 1903: 1048:

monitoring, as well as for determining the mechanisms of resistance,

992: 824: 637: 541: 316: 53: 6939: 6523: 6389: 6364: 6235: 4752: 4324: 2220: 1833: 1808: 1098:, loss of anonymity, and psychological impacts such as discovery of 751:

for Genomics was cancelled in 2013, before its official start date.

9019: 8962: 8423: 8267: 8237: 8081: 8071: 7999: 7393: 7170: 6865:"World's biggest set of human genome sequences opens to scientists" 6794: 5627: 4172: 3207: 2315: 2290: 1183: 878: 850: 673: 661:

Total cost of sequencing a whole human genome as calculated by the

520:

from the mother and used for whole genome sequencing of the fetus.

398: 369: 231: 6283:"Protecting trust in medical genetics in the new era of forensics" 6170: 5962: 5679: 5631:"The BabySeq project: implementing genomic sequencing in newborns" 5340:

Li, Xihao; Li, Zilin; Zhou, Hufeng; et al. (September 2020).

4043:"A Chinese Genome Giant Sets Its Sights on the Ultimate Sequencer" 2483:

Waterston RH; Lindblad-Toh K; Birney E; et al. (2002-10-31).

2482: 2108: 1751:"Progress towards the integration of pharmacogenomics in practice" 1358:(sometimes above and sometimes below the accuracy defined above). 782:

head to head in the race to commercialize full genome sequencing.

7872: 7332: 7300: 7193: 6984: 6365:"Access : All about Craig: the first 'full' genome sequence" 5389:

Li, Zilin; Li, Xihao; Zhou, Hufeng; et al. (December 2022).

3609: 3045:"Nanopore sequencing technology, bioinformatics and applications" 2485:"Initial sequencing and comparative analysis of the mouse genome" 2390: 1204: 1175: 1062: 1045: 349: 264: 122:

and improve the knowledge available to researchers interested in

5258:

Schwarze, K; Buchanan, J; Taylor, Jc; Wordsworth, S (May 2018).

5257: 3938:(paper). Vol. 34, no. 4. 15 February 2014. p. 18. 2771: 2583:"Sequence information can be obtained from single DNA molecules" 490:, plant leaves, or anything else that has DNA-containing cells. 401:, was published. By the year 2000, the second animal and second 8091: 8066: 6280: 5976: 5736: 4355: 2532:

International Human Genome Sequencing Consortium (2004-09-07).

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at a single time. This entails sequencing all of an organism's

88: 37: 1880: 267:

were first sequenced, largely due to their small genome size.

253:

The first virus to have its complete genome sequenced was the

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Borry P; Fryns JP; Schotsmans P; Dierickx K (February 2006).

4307:

Campbell CD; Chong JX; Malig M; et al. (November 2012).

3663: 3610:"SOLiD System — a next-gen DNA sequencing platform announced" 798: 747:

at a recurring cost of no more than $ 1,000 per genome". The

669: 597:(formerly "next-generation") sequencing technologies such as 500:

Single cell genome sequencing is being tested as a method of

416: 163: 6086: 5845:"Genomic newborn screening: current concerns and challenges" 2806: 1988: 1145: 447:

thousands of genomes have been wholly or partially sequenced

326:

The first bacterial and archaeal genomes, including that of

7968: 7139: 6631: 5207: 4400:"Rates and fitness consequences of new mutations in humans" 4117:"Blog: True Size of a Human Genome | Veritas Genetics" 3106: 941: 487: 479: 5907:

Accountability in Research: Policies and Quality Assurance

4306: 3837:"Illumina Announces $ 5,000 Genome Pricing – Bio-IT World" 2698:"A strategy of DNA sequencing employing computer programs" 2337: 271:

has a genome of 1,830,140 base pairs of DNA. In contrast,

263:

in 1995. After it, the genomes of other bacteria and some

8830: 8061: 8056: 6787: 6217: 5038: 4972:

Mayer AN, Dimmock DP, Arca MJ, et al. (March 2011).

4535: 3505:"Cheaper DNA sequencing unlocks secrets of rare diseases" 2439: 2157: 1698: 701: 628:

In principle, full genome sequencing can provide the raw

84: 4862: 4250:

Roach JC; Glusman G; Smit AF; et al. (April 2010).

4249: 4066: 2534:"Finishing the euchromatic sequence of the human genome" 2268:(5th ed.). New York: Garland Science. p. 552. 2111:"Finishing the euchromatic sequence of the human genome" 1860:(5th ed.). New York: Garland Science. p. 551. 1534:(5th ed.). New York: Garland Science. p. 550. 861:

In cancer, mutation frequencies are much higher, due to

360:

eukaryote to have its whole genome sequenced. The first

173:

was the first animal to have its whole genome sequenced.

118:

level is also used to pinpoint functional variants from

6413:

Scherer SW, Strausberg RL, Venter JC (September 2007).

4737: 4131:"Psst, the human genome was never completely sequenced" 1529: 6904: 5904: 5545: 4890: 4809: 4635: 3454:"Pacific Biosciences gains $ 100M for sequencing tech" 1640: 1182:) from the Netherlands (at 7 to 8-fold), and a female 1077:

tool were deliberated and in 2021, further discussed.

965:

for this crucial step. This step leads to a so-called

560:(TIGR) to sequence the entire genome of the bacterium 8804: 5290: 4816:"Clinical assessment incorporating a personal genome" 3779:

Drmanac R, Sparks AB, Callow MJ, et al. (2010).

2660: 813: 708:. These companies are heavily financed and backed by 64:, both the female (XX) and male (XY) versions of the 6807: 6805: 6577:"The diploid genome sequence of an Asian individual" 6415:"The diploid genome sequence of an individual human" 5611:"Boston Researchers To Sequence Newborn Babies' DNA" 4067:

Phillips, K. A; Pletcher, M. J; Ladabaum, U (2015).

3480:"Complete Genomics brings radical reduction in cost" 1280:

Non–Veterans Affairs researchers get access in 2022

129:

Whole genome sequencing should not be confused with

6632:Bentley DR; Balasubramanian S; et al. (2008). 4944:"One In A Billion: A boy's life, a medical mystery" 3778: 6051: 3042: 2641: 884: 44:are commonly used to sequence portions of genomes. 6802: 5488: 2081: 1010: 9096: 6900: 6898: 6411: 5900: 5898: 5896: 5894: 5892: 5890: 5888: 5886: 5119:"Genomes2People: A Roadmap for Genomic Medicine" 4971: 3764:: CS1 maint: bot: original URL status unknown ( 3592:"X Prize for genomes cancelled before it begins" 3158:"Whole Genome Sequencing Costs Continue to Drop" 2976: 2744: 2391:The Arabidopsis Genome Initiative (2000-12-14). 1140: 827:, the previous leader in genotyping technology. 8493:Strategies for engineered negligible senescence 2937: 2935: 1809:"Next-generation sequencing: The genome jigsaw" 409:) genome was sequenced – that of the fruit fly 6749:"New Book Details Jobs's Fight Against Cancer" 6573: 6468:. International Herald Tribune. Archived from 5388: 5339: 3901: 3772: 3660:"Individual genome sequencing — Illumina, Inc" 3232: 3230: 2941: 295:) respectively, have much larger genomes (see 8790: 8368: 7984: 7155: 6955: 6895: 6405: 5883: 5539: 4866:Journal of the American College of Cardiology 4810:Ashley, EA; Butte, AJ; Wheeler, MT; Chen, R; 4455: 4040: 3569:"Outpaced by Innovation: Canceling an XPRIZE" 3555:"PRIZE Overview: Archon X PRIZE for Genomics" 3502: 2747:Methods: A Companion to Methods in Enzymology 1984: 1982: 1980: 368:, to have its whole genome sequenced was the 6332:"In the Genome Race, the Sequel Is Personal" 6266:: CS1 maint: multiple names: authors list ( 6218:McGuire, Amy, L; Caulfield, Timothy (2008). 4449: 4397: 4357:Z; Boomsma DI; Slagboom PE (December 2013). 4349: 4166: 3948: 3451: 3428: 2932: 1229:, the major databases of whole genomes are: 1178:(at 30-fold), a female clinical geneticist ( 849:Whole genome sequencing has established the 504:, wherein a cell from the embryo created by 457: 4686: 4578: 3746:. Archived from the original on 15 May 2016 3379: 3227: 2835: 2800: 2765: 612:Other technologies have emerged, including 8797: 8783: 8757: 8375: 8361: 7991: 7977: 7444:Reproductive endocrinology and infertility 7162: 7148: 6962: 6948: 5842: 3484:Silicon Valley / San Jose Business Journal 3099: 2689: 2580: 2035:"The C-value paradox, junk DNA and ENCODE" 1977: 393:In 1999, the entire DNA sequence of human 8382: 7785:Bachelor of Medicine, Bachelor of Surgery 6793: 6723: 6665: 6608: 6550: 6440: 6430: 6388: 6306: 6243: 6147: 6025: 6002: 5961: 5772: 5754: 5713: 5656: 5646: 5514: 5414: 5365: 5316: 5275: 5234: 5065: 4989: 4919: 4909: 4839: 4782: 4780: 4778: 4714: 4704: 4612: 4481: 4423: 4374: 4332: 4283: 4200: 4190: 4092: 3847: 3804: 3208:San Diego/Orange County Technology News. 3076: 3019: 2907: 2721: 2616: 2606: 2557: 2508: 2416: 2359: 2314: 2291:"The DNA sequence of human chromosome 22" 2134: 2058: 1832: 1774: 1725: 1675: 1609: 1146:First people with public genome sequences 1057:ctDNA in plasma that allows for complete 6912:National Human Genome Research Institute 6862: 6466:"DNA pioneer Watson gets own genome map" 4507:"Sandwalk: How Big Is the Human Genome?" 2695: 2084:Botanical Journal of the Linnean Society 1855: 1579: 1269:(NIH) requires project-specific consent 1211:. This is believed to be the first such 656: 527: 334:. In 1996, the first eukaryotic genome ( 219: 205: 192: 176: 162: 148: 47: 36: 8324:List of genetics research organizations 6930:James Watson's Personal Genome Sequence 6907:"The Cost of Sequencing a Human Genome" 6362: 5209:Kingsmore, Stephen F. (December 2018). 4974:"A timely arrival for genomic medicine" 4786: 4223: 4015: 3981:"The Cost of Sequencing a Human Genome" 3528: 2263: 972:Genomes2People (G2P), an initiative of 844: 452: 352:has a genome of only around 12 million 56:of a human, showing an overview of the 14: 9097: 8613:Differential technological development 6935:AAAS/Science: Genome Sequencing Poster 6030:. London: Times Online. Archived from 5795: 5297:The American Journal of Human Genetics 5159:from the original on 29 September 2017 4775: 4687:Supek, Fran; Lehner, Ben (July 2017). 3711:"Cost of Decoding a Genome Is Lowered" 3477: 3184:"Genome Sequencing for the Rest of Us" 3181: 2288: 1748: 1193:Creative Commons public domain license 944:that was causing widespread problems. 620:whole-genome sequencing applications. 8778: 8356: 7972: 7143: 6969: 6943: 6493:"Genome of DNA Pioneer Is Deciphered" 5189:from the original on 14 February 2017 5129:from the original on 14 February 2017 4579:Supek, Fran; Lehner, Ben (May 2015). 4504: 3566: 2885: 2639: 2581:Braslavsky, Ido; et al. (2003). 1310:NIH expects to release by early 2022 877:H3K9me3 is associated with high, and 581: 512:into the uterus. After implantation, 202:was the first plant genome sequenced. 8419:Aldehyde-stabilized cryopreservation 7923: 7684:Physical medicine and rehabilitation 6746: 6490: 6463: 6330:Wade, Nicholas (September 4, 2007). 6329: 5100:from the original on 10 October 2016 4517:from the original on 1 December 2017 4505:Moran, Laurence A. (24 March 2011). 4151:. Gladstone.ucsf.edu. Archived from 3708: 2032: 1856:al.], Bruce Alberts ... [et (2008). 1806: 1490:List of sequenced eukaryotic genomes 1461: 1297:Researchers must join collaboration 1068: 914:elective genetic and genomic testing 646: 419:genome – that of the model organism 95:DNA as well as DNA contained in the 8702:Future-oriented technology analysis 7933: 6344:from the original on April 11, 2009 4224:Petrone, Justin (16 January 2007). 3589: 3365:. Technology Review. Archived from 1485:List of sequenced bacterial genomes 1322: 1088: 523: 189:whole genome was sequenced in 2000. 24: 7820:Medical Scientist Training Program 6505:from the original on June 20, 2011 5983:European Journal of Human Genetics 5686:European Journal of Human Genetics 3687:. Scienceblogs.com. Archived from 2210:from the original on 7 March 2016. 1807:Marx, Vivien (11 September 2013). 1706:European Journal of Human Genetics 1480:List of sequenced archaeal genomes 1260:Trans-Omics for Precision Medicine 1201:direct-to-consumer genetic testing 991:Institute for Genomic Medicine in 818: 814:Comparison with other technologies 558:The Institute for Genomic Research 25: 9156: 6923: 4456:Tuna M; Amos CI (November 2013). 3662:. Everygenome.com. Archived from 3635:"The $ 1000 Genome: Coming Soon?" 3340:. Nextbigfuture.com. 2008-03-25. 2640:Heger, Monica (October 2, 2013). 1510:List of sequenced protist genomes 899: 502:preimplantation genetic diagnosis 315:pairs (about 3.2 billion in each 307:pairs spread across thousands of 8756: 8337: 8336: 7952: 7942: 7932: 7922: 7913: 7912: 6856: 6830: 6781: 6763: 6759:from the original on 2017-09-28. 6740: 6682: 6625: 6567: 6517: 6484: 6457: 6356: 6323: 6274: 6211: 6189:10.1111/j.1399-0004.2006.00692.x 6164: 6123: 6080: 6045: 6019: 5970: 5949: 5836: 5814:10.1001/jamapediatrics.2021.2826 5789: 5730: 5673: 5621: 5603: 5482: 5454:(12): 1532–1533. December 2022. 5439: 5382: 5333: 5284: 5251: 5201: 5171: 5141: 5111: 5082: 5032: 5028:from the original on 2014-11-10. 3991:from the original on 2016-11-25. 3865:from the original on 2011-07-03. 3598:from the original on 2016-09-21. 3579:from the original on 2013-08-25. 3429:Monica Heger (26 October 2018). 3240:. Genengnews.com. Archived from 3182:Harmon, Katherine (2010-06-28). 3135:. Genengnews.com. Archived from 3100:Strickland, Eliza (2015-10-14). 2096:10.1111/j.1095-8339.2010.01072.x 1475:List of sequenced animal genomes 546:double-barrel shotgun sequencing 482:(as long as the hair contains a 384:bacterial artificial chromosomes 238:which are difficult to organise. 7953: 7026:Single-nucleotide polymorphisms 6491:Wade, Nicholas (May 31, 2007). 5014: 4965: 4954:from the original on 2013-10-05 4936: 4884: 4856: 4803: 4731: 4680: 4629: 4572: 4529: 4498: 4440: 4391: 4300: 4243: 4232:from the original on 2011-07-16 4217: 4141: 4123: 4109: 4060: 4034: 4009: 3995: 3973: 3942: 3925: 3914:from the original on 2013-01-07 3895: 3879:(press release). Archived from 3869: 3829: 3732: 3721:from the original on 2013-05-21 3702: 3677: 3652: 3641:from the original on 2011-04-15 3627: 3616:from the original on 2008-07-19 3602: 3583: 3560: 3548: 3537:from the original on 2009-08-08 3522: 3496: 3471: 3460:from the original on 2009-05-01 3445: 3422: 3396: 3380:Julia Karow (26 October 2015). 3373: 3355: 3344:from the original on 2010-12-20 3330: 3319:from the original on 2011-01-02 3305: 3294:from the original on 2009-02-17 3280: 3269:from the original on 2009-02-20 3255: 3212:. Freshnews.com. Archived from 3201: 3190:from the original on 2011-03-19 3175: 3164:from the original on 2009-03-25 3150: 3125: 3093: 3036: 2970: 2879: 2738: 2663:New England Journal of Medicine 2654: 2633: 2574: 2525: 2476: 2433: 2384: 2331: 2282: 2257: 2214: 2151: 2102: 2075: 2033:Eddy, Sean R. 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The work was led by 1096:genetic discrimination 1021:minor allele frequency 978:Harvard Medical School 793:in February 2012, and 665: 563:Haemophilus influenzae 533: 506:in vitro fertilization 375:Caenorhabditis elegans 260:Haemophilus influenzae 239: 217: 216:was published in 2002. 203: 190: 174: 170:Caenorhabditis elegans 160: 156:Haemophilus influenzae 135:whole exome sequencing 73: 62:homologous chromosomes 45: 8848:Accelerating universe 8618:Disruptive innovation 8527:Regenerative medicine 8522:Personalized medicine 8384:Emerging technologies 8319:List of genetic codes 7858:Personalized medicine 7717:Reproductive medicine 7642:Occupational medicine 7596:Evolutionary medicine 7052:Personalized medicine 6472:on September 27, 2008 5698:10.1038/ejhg.2014.289 5058:10.1093/eurpub/cku142 4797:10.1038/news.2010.465 4511:sandwalk.blogspot.com 3953:: nature.2014.14530. 1648:Nature Communications 1445:Personalized medicine 1414:Nucleic acid sequence 1316:Further information: 1152:Northwestern European 1042:circulating tumor DNA 904:Further information: 833:disruptive innovation 738:In October 2006, the 660: 566:in 1995, and then by 531: 223: 209: 196: 180: 166: 152: 108:personalized medicine 51: 40: 8981:Cancer immunotherapy 8946:Ardipithecus ramidus 8665:Technological change 8608:Collingridge dilemma 8218:Behavioural genetics 7878:Traditional medicine 7838:Alternative medicine 7705:Addiction psychiatry 7519:Transfusion medicine 7514:Medical microbiology 7429:Gynecologic oncology 7281:Reproductive surgery 7124:1000 Genomes Project 7114:Human Genome Project 7062:Genetic epidemiology 6287:Genetics in Medicine 5995:10.1038/ejhg.2009.25 5215:npj Genomic Medicine 3883:on December 23, 2012 3049:Nature Biotechnology 2714:10.1093/nar/6.7.2601 2675:10.1056/NEJMp1215536 1718:10.1038/ejhg.2013.46 1419:Human Genome Project 1170:man (at 36-fold), a 875:histone modification 845:Mutation frequencies 453:Experimental details 436:Human Genome Project 422:Arabidopsis thaliana 330:, were sequenced by 199:Arabidopsis thaliana 124:evolutionary biology 70:mitochondrial genome 18:Full genome sequence 9024:neutron star merger 9012:gravitational waves 8920:Poincaré conjecture 8722:Technology scouting 8697:Accelerating change 8466:Genetic engineering 8298:Population genomics 8288:Molecular evolution 8248:Genetic engineering 7900:History of medicine 7883:Veterinary medicine 7690:Preventive medicine 7542:Adolescent medicine 7384:Infectious diseases 7076:Analysis techniques 7057:Predictive medicine 7031:Identity by descent 7006:Biological specimen 6990:Biological database 6842:www.ukbiobank.ac.uk 6716:10.1038/nature07485 6708:2008Natur.456...66L 6658:10.1038/nature07517 6650:2008Natur.456...53B 6601:10.1038/nature07484 6593:2008Natur.456...60W 6552:10.1038/nature06884 6543:2008Natur.452..872W 6381:2007Natur.449....6L 5919:2013ARPQ...20..143D 5565:2022Natur.608..199H 5046:Eur J Public Health 4658:10.1038/nature11273 4650:2012Natur.488..504S 4605:10.1038/nature14173 4597:2015Natur.521...81S 4376:10.1017/thg.2013.73 4268:2010Sci...328..636R 3797:2010Sci...327...78D 2996:2019NatSD...6..285S 2900:2000Sci...287.2185. 2857:1995Sci...269..496F 2599:2003PNAS..100.3960B 2559:10.1038/nature03001 2550:2004Natur.431..931H 2510:10.1038/nature01262 2501:2002Natur.420..520W 2454:2001Sci...291.1304V 2448:(5507): 1304–1351. 2409:2000Natur.408..796T 2352:2000Sci...287.2185. 2346:(5461): 2185–2195. 2307:1999Natur.402..489D 2235:1998Sci...282.2012. 2229:(5396): 2012–2018. 2177:1996Sci...274..546G 2136:10.1038/nature03001 2127:2004Natur.431..931H 2051:2012CBio...22.R898E 2004:1995Sci...269..496F 1947:1992Natur.357...38O 1896:1976Natur.260..500F 1825:2013Natur.501..263M 1660:2014NatCo...5.5224N 1602:10.1038/nature13394 1594:2014Natur.511..344G 1440:Predictive medicine 1369:Coverage (genetics) 910:predictive medicine 710:venture capitalists 686:Helicos Biosciences 614:Nanopore technology 514:cell-free fetal DNA 120:association studies 9145:Molecular genetics 9065:protein structures 8739:Technology roadmap 8559:Synthetic genomics 8549:Relational biology 8537:Tissue engineering 8461:Generative biology 8258:Genetic monitoring 7848:Molecular oncology 7805:Doctor of Medicine 7795:Master of Medicine 7712:Radiation oncology 7584:Emergency medicine 7537:Addiction medicine 7504:Clinical chemistry 7499:Clinical pathology 7291:Transplant surgery 7249:Orthopedic surgery 7227:Colorectal surgery 6844:. 17 November 2021 6753:The New York Times 6498:The New York Times 6337:The New York Times 6136:Eur. J. Hum. Genet 5183:clinicaltrials.gov 4699:(3): 534–547.e23. 4550:10.1002/humu.21616 4363:Twin Res Hum Genet 4085:10.3233/THC-150900 3908:The New York Times 3740:"Technology Index" 3715:The New York Times 3567:Diamandis, Peter. 1668:10.1038/ncomms6224 1154:ancestry in 2007 ( 1127:genetic counseling 950:Quality assessment 863:genome instability 761:Applied Biosystems 740:X Prize Foundation 690:GE Global Research 666: 582:Current techniques 572:Applied Biosystems 538:shotgun sequencing 534: 332:Shotgun sequencing 240: 236:repeated sequences 218: 204: 191: 175: 161: 74: 46: 9105:Molecular biology 9092: 9091: 9052:COVID-19 vaccines 9008:First observation 8876:Molecular circuit 8772: 8771: 8591: 8590: 8554:Synthetic biology 8532:Stem-cell therapy 8515:engineered uterus 8429:Artificial organs 8350: 8349: 8273:He Jiankui affair 8263:Genetic genealogy 8253:Genetic diversity 8182:the British Isles 8087:Genetic variation 7966: 7965: 7800:Master of Surgery 7764: 7763: 7749:Tropical medicine 7695:Prison healthcare 7610:Hospital medicine 7574:Disaster medicine 7564:Aviation medicine 7379:Hospital medicine 7286:Surgical oncology 7271:Pediatric surgery 7265: 7212:Endocrine surgery 7137: 7136: 7011:De-identification 6971:Personal genomics 6777:on June 10, 2012. 5808:(11): 1107–1108. 5692:(12): 1593–1600. 5559:(7921): 199–208. 5401:(12): 1599–1611. 4826:(9725): 1525–35. 4791:: news.2010.465. 4644:(7412): 504–507. 3456:. FierceBiotech. 3055:(11): 1348–1365. 2956:10.1021/ac802712u 2894:(5461): 2185–95. 2851:(5223): 496–512. 2702:Nucleic Acids Res 2544:(7011): 931–945. 2495:(6915): 520–562. 2403:(6814): 796–815. 2301:(6761): 489–495. 2275:978-0-8153-4106-2 2171:(5287): 546–567. 2121:(7011): 931–945. 2045:(21): R898–R899. 1998:(5223): 496–512. 1890:(5551): 500–507. 1867:978-0-8153-4106-2 1819:(7466): 263–268. 1712:(Suppl 1): S1–5. 1541:978-0-8153-4106-2 1462:Sequenced genomes 1389:Duplex sequencing 1344:finished sequence 1314: 1313: 1075:newborn screening 1069:Newborn screening 906:Personal genomics 789:in January 2012, 787:Life Technologies 682:Complete Genomics 678:454 Life Sciences 647:Commercialization 576:Life Technologies 340:) was sequenced. 255:Bacteriophage MS2 248:Sanger sequencing 227:Elaeis guineensis 42:Electropherograms 16:(Redirected from 9152: 9135:Medical genetics 9085: 9077: 9068: 9055: 9046: 9035: 9027: 9014: 9002: 8994: 8983: 8975: 8966: 8957: 8949: 8939: 8931: 8923: 8914: 8905: 8894: 8886: 8884:RNA interference 8878: 8866: 8858: 8850: 8842: 8834: 8799: 8792: 8785: 8776: 8775: 8760: 8759: 8707:Horizon scanning 8623:Ephemeralization 8451:Brain transplant 8395: 8394: 8377: 8370: 8363: 8354: 8353: 8340: 8339: 8303:Reverse genetics 8278:Medical genetics 7993: 7986: 7979: 7970: 7969: 7956: 7955: 7946: 7936: 7935: 7926: 7925: 7916: 7915: 7620:Medical genetics 7605:General practice 7482:Nuclear medicine 7357:Gastroenterology 7313:Vascular surgery 7263: 7190: 7189: 7164: 7157: 7150: 7141: 7140: 7067:Pharmacogenomics 7036:Genetic disorder 6964: 6957: 6950: 6941: 6940: 6918: 6916: 6902: 6893: 6892: 6860: 6854: 6853: 6851: 6849: 6834: 6828: 6827: 6825: 6823: 6809: 6800: 6799: 6797: 6785: 6779: 6778: 6773:. Archived from 6767: 6761: 6760: 6744: 6738: 6737: 6727: 6686: 6680: 6679: 6669: 6629: 6623: 6622: 6612: 6571: 6565: 6564: 6554: 6521: 6515: 6514: 6512: 6510: 6488: 6482: 6481: 6479: 6477: 6461: 6455: 6454: 6444: 6434: 6409: 6403: 6402: 6392: 6360: 6354: 6353: 6351: 6349: 6327: 6321: 6320: 6310: 6293:(7): 1483–1485. 6278: 6272: 6271: 6265: 6257: 6247: 6215: 6209: 6208: 6168: 6162: 6161: 6151: 6127: 6121: 6120: 6084: 6078: 6077: 6049: 6043: 6042: 6040: 6039: 6023: 6017: 6016: 6006: 5974: 5968: 5967: 5965: 5953: 5947: 5946: 5902: 5881: 5880: 5840: 5834: 5833: 5793: 5787: 5786: 5776: 5758: 5734: 5728: 5727: 5717: 5677: 5671: 5670: 5660: 5650: 5625: 5619: 5618: 5607: 5601: 5600: 5543: 5537: 5536: 5518: 5486: 5480: 5479: 5443: 5437: 5436: 5418: 5386: 5380: 5379: 5369: 5337: 5331: 5330: 5320: 5288: 5282: 5281: 5279: 5255: 5249: 5248: 5238: 5205: 5199: 5198: 5196: 5194: 5185:. 22 July 2009. 5175: 5169: 5168: 5166: 5164: 5145: 5139: 5138: 5136: 5134: 5115: 5109: 5108: 5106: 5105: 5086: 5080: 5079: 5069: 5036: 5030: 5029: 5018: 5012: 5011: 4993: 4969: 4963: 4962: 4960: 4959: 4940: 4934: 4933: 4923: 4913: 4888: 4882: 4881: 4860: 4854: 4853: 4843: 4807: 4801: 4800: 4784: 4773: 4772: 4735: 4729: 4728: 4718: 4708: 4684: 4678: 4677: 4633: 4627: 4626: 4616: 4576: 4570: 4569: 4533: 4527: 4526: 4524: 4522: 4502: 4496: 4495: 4485: 4453: 4447: 4444: 4438: 4437: 4427: 4395: 4389: 4388: 4378: 4353: 4347: 4346: 4336: 4304: 4298: 4297: 4287: 4247: 4241: 4240: 4238: 4237: 4221: 4215: 4214: 4204: 4194: 4170: 4164: 4163: 4161: 4160: 4155:on June 30, 2010 4145: 4139: 4138: 4127: 4121: 4120: 4113: 4107: 4106: 4096: 4064: 4058: 4057: 4055: 4053: 4038: 4032: 4031: 4029: 4028: 4013: 4007: 4006: 3999: 3993: 3992: 3977: 3971: 3970: 3946: 3940: 3939: 3929: 3923: 3922: 3920: 3919: 3899: 3893: 3892: 3890: 3888: 3873: 3867: 3866: 3851: 3845: 3844: 3839:. Archived from 3833: 3827: 3826: 3808: 3776: 3770: 3769: 3763: 3755: 3753: 3751: 3736: 3730: 3729: 3727: 3726: 3706: 3700: 3699: 3697: 3696: 3691:on June 16, 2009 3681: 3675: 3674: 3672: 3671: 3656: 3650: 3649: 3647: 3646: 3631: 3625: 3624: 3622: 3621: 3606: 3600: 3599: 3590:Aldhous, Peter. 3587: 3581: 3580: 3564: 3558: 3552: 3546: 3545: 3543: 3542: 3533:. Synthesis.cc. 3526: 3520: 3519: 3517: 3515: 3500: 3494: 3493: 3491: 3490: 3475: 3469: 3468: 3466: 3465: 3449: 3443: 3442: 3440: 3438: 3426: 3420: 3419: 3417: 3415: 3400: 3394: 3393: 3391: 3389: 3377: 3371: 3370: 3359: 3353: 3352: 3350: 3349: 3334: 3328: 3327: 3325: 3324: 3309: 3303: 3302: 3300: 3299: 3284: 3278: 3277: 3275: 3274: 3259: 3253: 3252: 3250: 3249: 3234: 3225: 3224: 3222: 3221: 3205: 3199: 3198: 3196: 3195: 3179: 3173: 3172: 3170: 3169: 3160:. Eyeondna.com. 3154: 3148: 3147: 3145: 3144: 3129: 3123: 3122: 3120: 3119: 3110:. Archived from 3097: 3091: 3090: 3080: 3040: 3034: 3033: 3023: 2974: 2968: 2967: 2939: 2930: 2929: 2911: 2883: 2877: 2876: 2839: 2833: 2832: 2804: 2798: 2797: 2769: 2763: 2762: 2742: 2736: 2735: 2725: 2693: 2687: 2686: 2658: 2652: 2651: 2645: 2637: 2631: 2630: 2620: 2610: 2593:(7): 3960–3984. 2578: 2572: 2571: 2561: 2529: 2523: 2522: 2512: 2480: 2474: 2473: 2437: 2431: 2430: 2420: 2418:10.1038/35048692 2388: 2382: 2381: 2363: 2335: 2329: 2328: 2318: 2286: 2280: 2279: 2261: 2255: 2254: 2218: 2212: 2211: 2209: 2155: 2149: 2148: 2138: 2106: 2100: 2099: 2079: 2073: 2072: 2062: 2030: 2024: 2023: 1986: 1975: 1974: 1955:10.1038/357038a0 1930: 1924: 1923: 1904:10.1038/260500a0 1878: 1872: 1871: 1853: 1847: 1846: 1836: 1804: 1798: 1795: 1789: 1788: 1778: 1746: 1740: 1739: 1729: 1696: 1690: 1689: 1679: 1638: 1632: 1631: 1613: 1577: 1571: 1570: 1568: 1567: 1552: 1546: 1545: 1527: 1429:Genomics England 1409:Medical genetics 1394:Exome Sequencing 1329:genomic coverage 1323:Genomic coverage 1286:Genomics England 1232: 1231: 1123:medical genetics 1089:Ethical concerns 1006: 1002: 934: 803:Veritas Genetics 729: 718:investment banks 694:General Electric 524:Early techniques 472:epithelial cells 188: 21: 9160: 9159: 9155: 9154: 9153: 9151: 9150: 9149: 9095: 9094: 9093: 9088: 9080: 9071: 9058: 9049: 9038: 9030: 9017: 9005: 8997: 8986: 8978: 8969: 8960: 8955:quantum machine 8952: 8942: 8934: 8926: 8917: 8908: 8897: 8889: 8881: 8869: 8861: 8853: 8845: 8840:Dolly the sheep 8837: 8828: 8821: 8811: 8803: 8773: 8768: 8748: 8587: 8576:Oncolytic virus 8478:Head transplant 8386: 8381: 8351: 8346: 8328: 8307: 8206: 8197:the Middle East 8163:Archaeogenetics 8157: 8101: 8040: 8002: 7997: 7967: 7962: 7904: 7893:Chief physician 7826: 7771: 7760: 7754:Travel medicine 7739:Sports medicine 7722:Sexual medicine 7662:Palliative care 7657:Pain management 7601:Family medicine 7579:Diving medicine 7525: 7453: 7415: 7408: 7324: 7317: 7276:Plastic surgery 7222:General surgery 7202:Cardiac surgery 7183: 7181: 7173: 7168: 7138: 7133: 7102: 7098:Genetic testing 7071: 7040: 7021:Genetic linkage 6994: 6978:Data collection 6973: 6968: 6926: 6921: 6903: 6896: 6875:(7990): 16–17. 6861: 6857: 6847: 6845: 6836: 6835: 6831: 6821: 6819: 6817:www.science.org 6811: 6810: 6803: 6786: 6782: 6769: 6768: 6764: 6745: 6741: 6702:(7218): 66–72. 6687: 6683: 6630: 6626: 6587:(7218): 60–65. 6572: 6568: 6537:(7189): 872–6. 6522: 6518: 6508: 6506: 6489: 6485: 6475: 6473: 6462: 6458: 6410: 6406: 6390:10.1038/449006a 6361: 6357: 6347: 6345: 6328: 6324: 6279: 6275: 6259: 6258: 6236:10.1038/nrg2302 6216: 6212: 6169: 6165: 6128: 6124: 6085: 6081: 6050: 6046: 6037: 6035: 6024: 6020: 5975: 5971: 5954: 5950: 5903: 5884: 5841: 5837: 5802:JAMA Pediatrics 5794: 5790: 5735: 5731: 5678: 5674: 5626: 5622: 5609: 5608: 5604: 5544: 5540: 5495:Nature Genetics 5487: 5483: 5445: 5444: 5440: 5387: 5383: 5346:Nature Genetics 5338: 5334: 5289: 5285: 5264:Value in Health 5256: 5252: 5206: 5202: 5192: 5190: 5177: 5176: 5172: 5162: 5160: 5147: 5146: 5142: 5132: 5130: 5117: 5116: 5112: 5103: 5101: 5088: 5087: 5083: 5037: 5033: 5020: 5019: 5015: 4970: 4966: 4957: 4955: 4942: 4941: 4937: 4904:(9): e1002280. 4889: 4885: 4861: 4857: 4808: 4804: 4785: 4776: 4753:10.1038/ng.3596 4741:Nature Genetics 4736: 4732: 4685: 4681: 4634: 4630: 4591:(7550): 81–84. 4577: 4573: 4534: 4530: 4520: 4518: 4503: 4499: 4454: 4450: 4445: 4441: 4396: 4392: 4354: 4350: 4325:10.1038/ng.2418 4319:(11): 1277–81. 4305: 4301: 4262:(5978): 636–9. 4248: 4244: 4235: 4233: 4222: 4218: 4171: 4167: 4158: 4156: 4149:"Genomics Core" 4147: 4146: 4142: 4129: 4128: 4124: 4119:. 28 July 2017. 4115: 4114: 4110: 4065: 4061: 4051: 4049: 4039: 4035: 4026: 4024: 4014: 4010: 4005:. 6 March 2016. 4001: 4000: 3996: 3979: 3978: 3974: 3947: 3943: 3931: 3930: 3926: 3917: 3915: 3900: 3896: 3886: 3884: 3875: 3874: 3870: 3853: 3852: 3848: 3835: 3834: 3830: 3791:(5961): 78–81. 3777: 3773: 3757: 3756: 3749: 3747: 3738: 3737: 3733: 3724: 3722: 3707: 3703: 3694: 3692: 3683: 3682: 3678: 3669: 3667: 3658: 3657: 3653: 3644: 3642: 3633: 3632: 3628: 3619: 3617: 3608: 3607: 3603: 3588: 3584: 3573:Huffington Post 3565: 3561: 3553: 3549: 3540: 3538: 3527: 3523: 3513: 3511: 3509:Financial Times 3501: 3497: 3488: 3486: 3476: 3472: 3463: 3461: 3450: 3446: 3436: 3434: 3427: 3423: 3413: 3411: 3402: 3401: 3397: 3387: 3385: 3378: 3374: 3361: 3360: 3356: 3347: 3345: 3336: 3335: 3331: 3322: 3320: 3311: 3310: 3306: 3297: 3295: 3286: 3285: 3281: 3272: 3270: 3261: 3260: 3256: 3247: 3245: 3236: 3235: 3228: 3219: 3217: 3206: 3202: 3193: 3191: 3180: 3176: 3167: 3165: 3156: 3155: 3151: 3142: 3140: 3131: 3130: 3126: 3117: 3115: 3098: 3094: 3041: 3037: 2984:Scientific Data 2975: 2971: 2940: 2933: 2909:10.1.1.549.8639 2884: 2880: 2840: 2836: 2805: 2801: 2770: 2766: 2743: 2739: 2694: 2690: 2659: 2655: 2638: 2634: 2579: 2575: 2530: 2526: 2481: 2477: 2438: 2434: 2389: 2385: 2361:10.1.1.549.8639 2336: 2332: 2287: 2283: 2276: 2262: 2258: 2219: 2215: 2207: 2156: 2152: 2107: 2103: 2080: 2076: 2039:Current Biology 2031: 2027: 1987: 1978: 1941:(6373): 38–46. 1931: 1927: 1879: 1875: 1868: 1854: 1850: 1834:10.1038/501261a 1805: 1801: 1796: 1792: 1747: 1743: 1697: 1693: 1639: 1635: 1588:(7509): 344–7. 1578: 1574: 1565: 1563: 1554: 1553: 1549: 1542: 1528: 1524: 1520: 1515: 1514: 1464: 1364: 1356:draft sequences 1325: 1320: 1290:100,000 Genomes 1221: 1213:Public Genomics 1180:Marjolein Kriek 1156:J. Craig Venter 1148: 1143: 1119:genetic testing 1117:for predictive 1091: 1071: 1038: 1025:SNP annotations 1013: 1004: 1003:USD to $ 24,810 1000: 982:Robert C. Green 963:genotranslation 932: 916: 902: 893: 887: 847: 842: 821: 819:DNA microarrays 816: 757: 736: 727: 655: 649: 626: 607:SMRT sequencing 595:high-throughput 590: 584: 568:Celera Genomics 526: 510:embryo transfer 460: 455: 440:Marjolein Kriek 364:eukaryote, and 297:C-value paradox 186: 147: 112:gene sequencing 35: 28: 23: 22: 15: 12: 11: 5: 9158: 9148: 9147: 9142: 9137: 9132: 9127: 9125:Bioinformatics 9122: 9117: 9112: 9110:DNA sequencing 9107: 9090: 9089: 9087: 9086: 9078: 9069: 9056: 9047: 9036: 9028: 9015: 9003: 8995: 8984: 8976: 8967: 8965:clinical trial 8958: 8950: 8940: 8932: 8924: 8915: 8906: 8895: 8887: 8879: 8867: 8859: 8851: 8843: 8835: 8825: 8823: 8813: 8812: 8802: 8801: 8794: 8787: 8779: 8770: 8769: 8767: 8766: 8753: 8750: 8749: 8747: 8746: 8741: 8736: 8731: 8726: 8725: 8724: 8719: 8714: 8709: 8704: 8699: 8689: 8684: 8679: 8674: 8673: 8672: 8662: 8657: 8652: 8651: 8650: 8645: 8640: 8635: 8625: 8620: 8615: 8610: 8605: 8599: 8597: 8593: 8592: 8589: 8588: 8586: 8585: 8580: 8579: 8578: 8568: 8563: 8562: 8561: 8551: 8546: 8541: 8540: 8539: 8534: 8524: 8519: 8518: 8517: 8507: 8502: 8497: 8496: 8495: 8488:Life extension 8485: 8483:Isolated brain 8480: 8475: 8474: 8473: 8463: 8458: 8453: 8448: 8446:Biofabrication 8443: 8442: 8441: 8436: 8434:Organ printing 8426: 8421: 8416: 8415: 8414: 8407:3D bioprinting 8403: 8401: 8392: 8388: 8387: 8380: 8379: 8372: 8365: 8357: 8348: 8347: 8345: 8344: 8333: 8330: 8329: 8327: 8326: 8321: 8315: 8313: 8309: 8308: 8306: 8305: 8300: 8295: 8293:Plant genetics 8290: 8285: 8280: 8275: 8270: 8265: 8260: 8255: 8250: 8245: 8240: 8235: 8233:Genome editing 8230: 8225: 8220: 8214: 8212: 8211:Related topics 8208: 8207: 8205: 8204: 8199: 8194: 8189: 8184: 8179: 8174: 8168: 8166: 8159: 8158: 8156: 8155: 8150: 8145: 8140: 8135: 8133:Immunogenetics 8130: 8125: 8120: 8115: 8109: 8107: 8103: 8102: 8100: 8099: 8094: 8089: 8084: 8079: 8074: 8069: 8064: 8059: 8054: 8048: 8046: 8045:Key components 8042: 8041: 8039: 8038: 8033: 8028: 8023: 8018: 8013: 8007: 8004: 8003: 7996: 7995: 7988: 7981: 7973: 7964: 7963: 7961: 7960: 7950: 7940: 7930: 7920: 7909: 7906: 7905: 7903: 7902: 7897: 7896: 7895: 7885: 7880: 7875: 7870: 7865: 7860: 7855: 7850: 7845: 7840: 7834: 7832: 7831:Related topics 7828: 7827: 7825: 7824: 7823: 7822: 7812: 7807: 7802: 7797: 7792: 7787: 7782: 7780:Medical school 7776: 7774: 7766: 7765: 7762: 7761: 7759: 7758: 7757: 7756: 7746: 7741: 7736: 7734:Sleep medicine 7731: 7730: 7729: 7719: 7714: 7709: 7708: 7707: 7697: 7692: 7687: 7681: 7676: 7675: 7674: 7664: 7659: 7654: 7649: 7644: 7639: 7638: 7637: 7627: 7622: 7617: 7612: 7607: 7598: 7593: 7592: 7591: 7581: 7576: 7571: 7566: 7561: 7560: 7559: 7554: 7547:Anesthesiology 7544: 7539: 7533: 7531: 7527: 7526: 7524: 7523: 7522: 7521: 7516: 7511: 7506: 7501: 7496: 7486: 7485: 7484: 7479: 7477:Neuroradiology 7474: 7463: 7461: 7455: 7454: 7452: 7451: 7446: 7441: 7436: 7431: 7426: 7420: 7418: 7414:Obstetrics and 7410: 7409: 7407: 7406: 7401: 7396: 7391: 7386: 7381: 7376: 7371: 7366: 7365: 7364: 7354: 7349: 7344: 7339: 7329: 7327: 7319: 7318: 7316: 7315: 7310: 7309: 7308: 7298: 7296:Trauma surgery 7293: 7288: 7283: 7278: 7273: 7268: 7267: 7266: 7259:Otolaryngology 7256: 7251: 7246: 7241: 7236: 7235: 7234: 7229: 7219: 7214: 7209: 7204: 7198: 7196: 7187: 7185:subspecialties 7175: 7174: 7167: 7166: 7159: 7152: 7144: 7135: 7134: 7132: 7131: 7126: 7121: 7116: 7110: 7108: 7107:Major projects 7104: 7103: 7101: 7100: 7095: 7090: 7085: 7079: 7077: 7073: 7072: 7070: 7069: 7064: 7059: 7054: 7048: 7046: 7042: 7041: 7039: 7038: 7033: 7028: 7023: 7018: 7013: 7008: 7002: 7000: 6999:Field concepts 6996: 6995: 6993: 6992: 6987: 6981: 6979: 6975: 6974: 6967: 6966: 6959: 6952: 6944: 6938: 6937: 6932: 6925: 6924:External links 6922: 6920: 6919: 6894: 6855: 6829: 6801: 6795:10.1101/000216 6780: 6762: 6739: 6681: 6644:(7218): 53–9. 6624: 6566: 6516: 6483: 6456: 6404: 6355: 6322: 6273: 6230:(2): 152–156. 6210: 6163: 6122: 6079: 6054:Clin Perinatol 6044: 6018: 5969: 5948: 5913:(3): 148–162. 5882: 5855:(10398): 265. 5835: 5788: 5729: 5672: 5635:BMC Pediatrics 5620: 5602: 5538: 5501:(1): 154–164. 5481: 5448:Nature Methods 5438: 5395:Nature Methods 5381: 5352:(9): 969–983. 5332: 5283: 5250: 5200: 5170: 5140: 5110: 5081: 5052:(6): 877–879. 5031: 5013: 4964: 4935: 4883: 4855: 4802: 4774: 4730: 4679: 4628: 4571: 4544:(1): 136–143. 4538:Human Mutation 4528: 4497: 4448: 4439: 4410:(2): 295–304. 4390: 4369:(6): 1026–32. 4348: 4299: 4242: 4216: 4165: 4140: 4122: 4108: 4079:(3): 373–379. 4059: 4033: 4008: 3994: 3985:www.genome.gov 3972: 3941: 3924: 3894: 3868: 3846: 3843:on 2011-05-17. 3828: 3771: 3731: 3701: 3676: 3651: 3626: 3601: 3582: 3559: 3547: 3521: 3495: 3470: 3444: 3421: 3395: 3372: 3369:on 2011-03-29. 3354: 3329: 3304: 3288:"Bio-IT World" 3279: 3254: 3226: 3200: 3174: 3149: 3124: 3092: 3035: 2969: 2950:(5): 1736–40. 2931: 2878: 2834: 2799: 2780:(4): 593–608. 2764: 2737: 2708:(7): 2601–10. 2688: 2653: 2632: 2573: 2524: 2475: 2432: 2383: 2330: 2316:10.1038/990031 2281: 2274: 2256: 2213: 2150: 2101: 2074: 2025: 1976: 1925: 1873: 1866: 1848: 1799: 1790: 1755:Human Genetics 1741: 1691: 1633: 1572: 1547: 1540: 1521: 1519: 1516: 1513: 1512: 1507: 1502: 1497: 1492: 1487: 1482: 1477: 1472: 1463: 1460: 1459: 1458: 1457: 1455:SNP annotation 1452: 1447: 1442: 1437: 1431: 1426: 1421: 1416: 1411: 1406: 1401: 1396: 1391: 1386: 1384:DNA sequencing 1381: 1376: 1374:DNA microarray 1371: 1365: 1363: 1360: 1348: 1347: 1340: 1337:draft sequence 1324: 1321: 1312: 1311: 1308: 1305: 1299: 1298: 1295: 1292: 1282: 1281: 1278: 1275: 1271: 1270: 1264: 1261: 1257: 1256: 1252: 1249: 1243: 1242: 1239: 1236: 1220: 1217: 1147: 1144: 1142: 1139: 1090: 1087: 1070: 1067: 1037: 1034: 1012: 1009: 938:bioinformatics 901: 900:Diagnostic use 898: 889:Main article: 886: 883: 846: 843: 841: 838: 820: 817: 815: 812: 756: 753: 749:Archon X Prize 744:Archon X Prize 735: 732: 653:$ 1,000 genome 651:Main article: 648: 645: 625: 622: 603:pyrosequencing 588:DNA Sequencing 586:Main article: 583: 580: 525: 522: 459: 456: 454: 451: 346:model organism 146: 143: 139:SNP genotyping 66:sex chromosome 32:DNA sequencing 26: 9: 6: 4: 3: 2: 9157: 9146: 9143: 9141: 9138: 9136: 9133: 9131: 9128: 9126: 9123: 9121: 9118: 9116: 9115:Biotechnology 9113: 9111: 9108: 9106: 9103: 9102: 9100: 9084: 9079: 9075: 9070: 9066: 9062: 9057: 9053: 9048: 9045: 9042: 9037: 9034: 9029: 9025: 9021: 9016: 9013: 9009: 9004: 9001: 8996: 8993: 8992:comet mission 8991: 8985: 8982: 8977: 8973: 8968: 8964: 8959: 8956: 8951: 8948: 8947: 8941: 8938: 8933: 8930: 8925: 8921: 8916: 8912: 8907: 8904: 8902: 8896: 8893: 8888: 8885: 8880: 8877: 8873: 8868: 8865: 8860: 8857: 8852: 8849: 8844: 8841: 8836: 8833:understanding 8832: 8827: 8826: 8824: 8820: 8819: 8814: 8810: 8808: 8800: 8795: 8793: 8788: 8786: 8781: 8780: 8777: 8765: 8764: 8755: 8754: 8751: 8745: 8744:Transhumanism 8742: 8740: 8737: 8735: 8732: 8730: 8727: 8723: 8720: 8718: 8715: 8713: 8710: 8708: 8705: 8703: 8700: 8698: 8695: 8694: 8693: 8690: 8688: 8685: 8683: 8680: 8678: 8675: 8671: 8668: 8667: 8666: 8663: 8661: 8658: 8656: 8653: 8649: 8646: 8644: 8641: 8639: 8636: 8634: 8631: 8630: 8629: 8626: 8624: 8621: 8619: 8616: 8614: 8611: 8609: 8606: 8604: 8601: 8600: 8598: 8594: 8584: 8581: 8577: 8574: 8573: 8572: 8569: 8567: 8564: 8560: 8557: 8556: 8555: 8552: 8550: 8547: 8545: 8542: 8538: 8535: 8533: 8530: 8529: 8528: 8525: 8523: 8520: 8516: 8513: 8512: 8511: 8510:Organ culture 8508: 8506: 8503: 8501: 8498: 8494: 8491: 8490: 8489: 8486: 8484: 8481: 8479: 8476: 8472: 8469: 8468: 8467: 8464: 8462: 8459: 8457: 8456:De-extinction 8454: 8452: 8449: 8447: 8444: 8440: 8437: 8435: 8432: 8431: 8430: 8427: 8425: 8422: 8420: 8417: 8413: 8410: 8409: 8408: 8405: 8404: 8402: 8400: 8396: 8393: 8389: 8385: 8378: 8373: 8371: 8366: 8364: 8359: 8358: 8355: 8343: 8335: 8334: 8331: 8325: 8322: 8320: 8317: 8316: 8314: 8310: 8304: 8301: 8299: 8296: 8294: 8291: 8289: 8286: 8284: 8281: 8279: 8276: 8274: 8271: 8269: 8266: 8264: 8261: 8259: 8256: 8254: 8251: 8249: 8246: 8244: 8241: 8239: 8236: 8234: 8231: 8229: 8226: 8224: 8221: 8219: 8216: 8215: 8213: 8209: 8203: 8200: 8198: 8195: 8193: 8190: 8188: 8185: 8183: 8180: 8178: 8175: 8173: 8170: 8169: 8167: 8164: 8160: 8154: 8151: 8149: 8146: 8144: 8141: 8139: 8136: 8134: 8131: 8129: 8126: 8124: 8121: 8119: 8116: 8114: 8111: 8110: 8108: 8104: 8098: 8095: 8093: 8090: 8088: 8085: 8083: 8080: 8078: 8075: 8073: 8070: 8068: 8065: 8063: 8060: 8058: 8055: 8053: 8050: 8049: 8047: 8043: 8037: 8034: 8032: 8029: 8027: 8024: 8022: 8019: 8017: 8014: 8012: 8009: 8008: 8005: 8001: 7994: 7989: 7987: 7982: 7980: 7975: 7974: 7971: 7959: 7951: 7949: 7945: 7941: 7939: 7931: 7929: 7921: 7919: 7911: 7910: 7907: 7901: 7898: 7894: 7891: 7890: 7889: 7886: 7884: 7881: 7879: 7876: 7874: 7871: 7869: 7866: 7864: 7863:Public health 7861: 7859: 7856: 7854: 7851: 7849: 7846: 7844: 7843:Allied health 7841: 7839: 7836: 7835: 7833: 7829: 7821: 7818: 7817: 7816: 7813: 7811: 7808: 7806: 7803: 7801: 7798: 7796: 7793: 7791: 7788: 7786: 7783: 7781: 7778: 7777: 7775: 7773: 7767: 7755: 7752: 7751: 7750: 7747: 7745: 7742: 7740: 7737: 7735: 7732: 7728: 7725: 7724: 7723: 7720: 7718: 7715: 7713: 7710: 7706: 7703: 7702: 7701: 7698: 7696: 7693: 7691: 7688: 7685: 7682: 7680: 7677: 7673: 7670: 7669: 7668: 7665: 7663: 7660: 7658: 7655: 7653: 7652:Oral medicine 7650: 7648: 7647:Ophthalmology 7645: 7643: 7640: 7636: 7633: 7632: 7631: 7628: 7626: 7623: 7621: 7618: 7616: 7613: 7611: 7608: 7606: 7602: 7599: 7597: 7594: 7590: 7587: 7586: 7585: 7582: 7580: 7577: 7575: 7572: 7570: 7567: 7565: 7562: 7558: 7555: 7553: 7550: 7549: 7548: 7545: 7543: 7540: 7538: 7535: 7534: 7532: 7528: 7520: 7517: 7515: 7512: 7510: 7509:Cytopathology 7507: 7505: 7502: 7500: 7497: 7495: 7492: 7491: 7490: 7487: 7483: 7480: 7478: 7475: 7473: 7470: 7469: 7468: 7465: 7464: 7462: 7460: 7456: 7450: 7449:Urogynecology 7447: 7445: 7442: 7440: 7437: 7435: 7432: 7430: 7427: 7425: 7422: 7421: 7419: 7417: 7411: 7405: 7402: 7400: 7397: 7395: 7392: 7390: 7387: 7385: 7382: 7380: 7377: 7375: 7372: 7370: 7367: 7363: 7360: 7359: 7358: 7355: 7353: 7352:Endocrinology 7350: 7348: 7345: 7343: 7340: 7338: 7334: 7331: 7330: 7328: 7326: 7320: 7314: 7311: 7307: 7304: 7303: 7302: 7299: 7297: 7294: 7292: 7289: 7287: 7284: 7282: 7279: 7277: 7274: 7272: 7269: 7262: 7261: 7260: 7257: 7255: 7252: 7250: 7247: 7245: 7242: 7240: 7237: 7233: 7230: 7228: 7225: 7224: 7223: 7220: 7218: 7215: 7213: 7210: 7208: 7205: 7203: 7200: 7199: 7197: 7195: 7191: 7188: 7186: 7180: 7176: 7172: 7165: 7160: 7158: 7153: 7151: 7146: 7145: 7142: 7130: 7127: 7125: 7122: 7120: 7117: 7115: 7112: 7111: 7109: 7105: 7099: 7096: 7094: 7091: 7089: 7086: 7084: 7081: 7080: 7078: 7074: 7068: 7065: 7063: 7060: 7058: 7055: 7053: 7050: 7049: 7047: 7043: 7037: 7034: 7032: 7029: 7027: 7024: 7022: 7019: 7017: 7014: 7012: 7009: 7007: 7004: 7003: 7001: 6997: 6991: 6988: 6986: 6983: 6982: 6980: 6976: 6972: 6965: 6960: 6958: 6953: 6951: 6946: 6945: 6942: 6936: 6933: 6931: 6928: 6927: 6914: 6913: 6908: 6901: 6899: 6890: 6886: 6882: 6878: 6874: 6870: 6866: 6859: 6843: 6839: 6833: 6818: 6814: 6808: 6806: 6796: 6791: 6784: 6776: 6772: 6766: 6758: 6754: 6750: 6743: 6735: 6731: 6726: 6721: 6717: 6713: 6709: 6705: 6701: 6697: 6693: 6685: 6677: 6673: 6668: 6663: 6659: 6655: 6651: 6647: 6643: 6639: 6635: 6628: 6620: 6616: 6611: 6606: 6602: 6598: 6594: 6590: 6586: 6582: 6578: 6570: 6562: 6558: 6553: 6548: 6544: 6540: 6536: 6532: 6528: 6520: 6504: 6500: 6499: 6494: 6487: 6471: 6467: 6460: 6452: 6448: 6443: 6438: 6433: 6428: 6424: 6420: 6416: 6408: 6400: 6396: 6391: 6386: 6382: 6378: 6375:(7158): 6–7. 6374: 6370: 6366: 6359: 6343: 6339: 6338: 6333: 6326: 6318: 6314: 6309: 6304: 6300: 6296: 6292: 6288: 6284: 6277: 6269: 6263: 6255: 6251: 6246: 6241: 6237: 6233: 6229: 6225: 6221: 6214: 6206: 6202: 6198: 6194: 6190: 6186: 6183:(5): 374–81. 6182: 6178: 6174: 6167: 6159: 6155: 6150: 6145: 6141: 6137: 6133: 6126: 6118: 6114: 6110: 6106: 6102: 6098: 6095:(6): 1451–5. 6094: 6090: 6083: 6075: 6071: 6067: 6063: 6060:(2): 425–34. 6059: 6055: 6048: 6034:on 2009-05-11 6033: 6029: 6022: 6014: 6010: 6005: 6000: 5996: 5992: 5988: 5984: 5980: 5973: 5964: 5959: 5952: 5944: 5940: 5936: 5932: 5928: 5924: 5920: 5916: 5912: 5908: 5901: 5899: 5897: 5895: 5893: 5891: 5889: 5887: 5878: 5874: 5870: 5866: 5862: 5858: 5854: 5850: 5846: 5839: 5831: 5827: 5823: 5819: 5815: 5811: 5807: 5803: 5799: 5792: 5784: 5780: 5775: 5770: 5766: 5762: 5757: 5752: 5748: 5744: 5740: 5733: 5725: 5721: 5716: 5711: 5707: 5703: 5699: 5695: 5691: 5687: 5683: 5676: 5668: 5664: 5659: 5654: 5649: 5644: 5640: 5636: 5632: 5624: 5617:. 2013-09-05. 5616: 5612: 5606: 5598: 5594: 5590: 5586: 5582: 5578: 5574: 5570: 5566: 5562: 5558: 5554: 5550: 5542: 5534: 5530: 5526: 5522: 5517: 5512: 5508: 5504: 5500: 5496: 5492: 5485: 5477: 5473: 5469: 5465: 5461: 5457: 5453: 5449: 5442: 5434: 5430: 5426: 5422: 5417: 5412: 5408: 5404: 5400: 5396: 5392: 5385: 5377: 5373: 5368: 5363: 5359: 5355: 5351: 5347: 5343: 5336: 5328: 5324: 5319: 5314: 5310: 5306: 5302: 5298: 5294: 5287: 5278: 5273: 5269: 5265: 5261: 5254: 5246: 5242: 5237: 5232: 5228: 5224: 5220: 5216: 5212: 5204: 5188: 5184: 5180: 5174: 5158: 5154: 5150: 5144: 5128: 5124: 5120: 5114: 5099: 5095: 5094:Rd-connect.eu 5091: 5085: 5077: 5073: 5068: 5063: 5059: 5055: 5051: 5047: 5043: 5035: 5027: 5023: 5017: 5009: 5005: 5001: 4997: 4992: 4987: 4983: 4979: 4975: 4968: 4953: 4949: 4945: 4939: 4931: 4927: 4922: 4917: 4912: 4907: 4903: 4899: 4898:PLOS Genetics 4895: 4887: 4879: 4875: 4872:(14): E1159. 4871: 4867: 4859: 4851: 4847: 4842: 4837: 4833: 4829: 4825: 4821: 4817: 4813: 4806: 4798: 4794: 4790: 4783: 4781: 4779: 4770: 4766: 4762: 4758: 4754: 4750: 4747:(8): 927–34. 4746: 4742: 4734: 4726: 4722: 4717: 4712: 4707: 4702: 4698: 4694: 4690: 4683: 4675: 4671: 4667: 4663: 4659: 4655: 4651: 4647: 4643: 4639: 4632: 4624: 4620: 4615: 4610: 4606: 4602: 4598: 4594: 4590: 4586: 4582: 4575: 4567: 4563: 4559: 4555: 4551: 4547: 4543: 4539: 4532: 4516: 4512: 4508: 4501: 4493: 4489: 4484: 4479: 4475: 4471: 4468:(2): 161–70. 4467: 4463: 4459: 4452: 4443: 4435: 4431: 4426: 4421: 4417: 4413: 4409: 4405: 4401: 4394: 4386: 4382: 4377: 4372: 4368: 4364: 4360: 4352: 4344: 4340: 4335: 4330: 4326: 4322: 4318: 4314: 4310: 4303: 4295: 4291: 4286: 4281: 4277: 4273: 4269: 4265: 4261: 4257: 4253: 4246: 4231: 4228:. GenomeWeb. 4227: 4220: 4212: 4208: 4203: 4198: 4193: 4188: 4184: 4180: 4176: 4169: 4154: 4150: 4144: 4137:. 2017-06-20. 4136: 4132: 4126: 4118: 4112: 4104: 4100: 4095: 4090: 4086: 4082: 4078: 4074: 4070: 4063: 4048: 4044: 4037: 4023: 4019: 4012: 4004: 3998: 3990: 3986: 3982: 3976: 3968: 3964: 3960: 3956: 3952: 3945: 3937: 3936: 3928: 3913: 3909: 3905: 3898: 3882: 3878: 3872: 3864: 3860: 3856: 3850: 3842: 3838: 3832: 3824: 3820: 3816: 3812: 3807: 3802: 3798: 3794: 3790: 3786: 3782: 3775: 3767: 3761: 3745: 3741: 3735: 3720: 3716: 3712: 3705: 3690: 3686: 3680: 3666:on 2011-10-19 3665: 3661: 3655: 3640: 3636: 3630: 3615: 3611: 3605: 3597: 3593: 3586: 3578: 3574: 3570: 3563: 3556: 3551: 3536: 3532: 3525: 3510: 3506: 3499: 3485: 3481: 3474: 3459: 3455: 3448: 3432: 3425: 3409: 3405: 3399: 3383: 3376: 3368: 3364: 3358: 3343: 3339: 3333: 3318: 3314: 3308: 3293: 3289: 3283: 3268: 3264: 3258: 3244:on 2006-10-17 3243: 3239: 3233: 3231: 3216:on 2008-12-05 3215: 3211: 3204: 3189: 3185: 3178: 3163: 3159: 3153: 3139:on 2006-10-17 3138: 3134: 3128: 3114:on 2015-11-16 3113: 3109: 3108: 3103: 3096: 3088: 3084: 3079: 3074: 3070: 3066: 3062: 3058: 3054: 3050: 3046: 3039: 3031: 3027: 3022: 3017: 3013: 3009: 3005: 3001: 2997: 2993: 2989: 2985: 2981: 2973: 2965: 2961: 2957: 2953: 2949: 2945: 2938: 2936: 2927: 2923: 2919: 2915: 2910: 2905: 2901: 2897: 2893: 2889: 2882: 2874: 2870: 2866: 2862: 2858: 2854: 2850: 2846: 2838: 2830: 2826: 2822: 2818: 2815:(2): 345–53. 2814: 2810: 2803: 2795: 2791: 2787: 2783: 2779: 2775: 2768: 2760: 2756: 2752: 2748: 2741: 2733: 2729: 2724: 2719: 2715: 2711: 2707: 2703: 2699: 2692: 2684: 2680: 2676: 2672: 2668: 2664: 2657: 2649: 2644: 2636: 2628: 2624: 2619: 2614: 2609: 2604: 2600: 2596: 2592: 2588: 2584: 2577: 2569: 2565: 2560: 2555: 2551: 2547: 2543: 2539: 2535: 2528: 2520: 2516: 2511: 2506: 2502: 2498: 2494: 2490: 2486: 2479: 2471: 2467: 2463: 2459: 2455: 2451: 2447: 2443: 2436: 2428: 2424: 2419: 2414: 2410: 2406: 2402: 2398: 2394: 2387: 2379: 2375: 2371: 2367: 2362: 2357: 2353: 2349: 2345: 2341: 2334: 2326: 2322: 2317: 2312: 2308: 2304: 2300: 2296: 2292: 2285: 2277: 2271: 2267: 2260: 2252: 2248: 2244: 2240: 2236: 2232: 2228: 2224: 2217: 2206: 2202: 2198: 2194: 2190: 2186: 2182: 2178: 2174: 2170: 2166: 2162: 2154: 2146: 2142: 2137: 2132: 2128: 2124: 2120: 2116: 2112: 2105: 2097: 2093: 2089: 2085: 2078: 2070: 2066: 2061: 2056: 2052: 2048: 2044: 2040: 2036: 2029: 2021: 2017: 2013: 2009: 2005: 2001: 1997: 1993: 1985: 1983: 1981: 1972: 1968: 1964: 1960: 1956: 1952: 1948: 1944: 1940: 1936: 1929: 1921: 1917: 1913: 1909: 1905: 1901: 1897: 1893: 1889: 1885: 1877: 1869: 1863: 1859: 1852: 1844: 1840: 1835: 1830: 1826: 1822: 1818: 1814: 1810: 1803: 1794: 1786: 1782: 1777: 1772: 1768: 1764: 1761:(5): 459–65. 1760: 1756: 1752: 1745: 1737: 1733: 1728: 1723: 1719: 1715: 1711: 1707: 1703: 1695: 1687: 1683: 1678: 1673: 1669: 1665: 1661: 1657: 1653: 1649: 1645: 1637: 1629: 1625: 1621: 1617: 1612: 1607: 1603: 1599: 1595: 1591: 1587: 1583: 1576: 1561: 1557: 1551: 1543: 1537: 1533: 1526: 1522: 1511: 1508: 1506: 1503: 1501: 1498: 1496: 1493: 1491: 1488: 1486: 1483: 1481: 1478: 1476: 1473: 1471: 1468: 1467: 1466: 1456: 1453: 1451: 1448: 1446: 1443: 1441: 1438: 1435: 1432: 1430: 1427: 1425: 1422: 1420: 1417: 1415: 1412: 1410: 1407: 1405: 1402: 1400: 1397: 1395: 1392: 1390: 1387: 1385: 1382: 1380: 1379:DNA profiling 1377: 1375: 1372: 1370: 1367: 1366: 1359: 1357: 1353: 1345: 1341: 1338: 1334: 1333: 1332: 1330: 1319: 1309: 1306: 1304: 1301: 1300: 1296: 1293: 1291: 1287: 1284: 1283: 1279: 1276: 1273: 1272: 1268: 1265: 1262: 1259: 1258: 1253: 1250: 1248: 1245: 1244: 1240: 1237: 1234: 1233: 1230: 1228: 1227: 1223:According to 1216: 1214: 1210: 1206: 1202: 1198: 1197:Manuel Corpas 1194: 1189: 1185: 1181: 1177: 1173: 1169: 1165: 1161: 1157: 1153: 1138: 1134: 1130: 1128: 1124: 1120: 1116: 1113: 1108: 1103: 1101: 1100:non-paternity 1097: 1086: 1082: 1078: 1076: 1066: 1064: 1060: 1055: 1051: 1047: 1043: 1033: 1029: 1026: 1022: 1018: 1017:rare variants 1008: 997: 994: 990: 985: 983: 979: 975: 970: 968: 964: 959: 955: 951: 945: 943: 939: 929: 925: 921: 915: 911: 907: 897: 892: 882: 880: 876: 870: 868: 864: 859: 855: 852: 837: 834: 828: 826: 811: 807: 804: 800: 796: 792: 788: 783: 779: 777: 773: 772:Stephen Quake 769: 764: 762: 752: 750: 745: 741: 731: 726: 721: 719: 715: 711: 707: 703: 699: 695: 691: 687: 683: 679: 675: 671: 664: 659: 654: 644: 641: 639: 634: 631: 621: 619: 615: 610: 608: 604: 600: 596: 589: 579: 577: 574:, now called 573: 569: 565: 564: 559: 554: 549: 547: 543: 539: 530: 521: 519: 515: 511: 507: 503: 498: 496: 491: 489: 485: 484:hair follicle 481: 477: 473: 469: 465: 450: 448: 443: 441: 437: 434:In 2004, the 432: 430: 429: 424: 423: 418: 414: 413: 408: 404: 400: 396: 395:chromosome 22 391: 389: 385: 381: 380:DNA libraries 377: 376: 371: 367: 363: 362:multicellular 359: 355: 351: 347: 343: 342:S. cerevisiae 339: 338: 333: 329: 328:H. influenzae 324: 322: 318: 314: 310: 306: 302: 298: 294: 293: 288: 287: 282: 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