609:, which aims to protect a subject's privacy by requiring "identifiers" such as name or address to be removed from collected data. A 2012 report by the Presidential Commission for the Study of Bioethical Issues stated, however, that "what constitutes 'identifiable' and 'de-identified' data is fluid and that evolving technologies and the increasing accessibility of data could allow de-identified data to become re-identified." In fact, research has already shown that it is "possible to discover a study participant's identity by cross-referencing research data about him and his DNA sequence … genetic genealogy and public-records databases." This has led to calls for policy-makers to establish consistent guidelines and best practices for the accessibility and usage of individual genomic data collected by researchers.
397:. This field allows researchers to better understand how genetic differences will influence the body's response to a drug and inform which medicine is most appropriate for the patient. These treatment plans will be able to prevent or at least minimize the adverse drug reactions which are a, "significant cause of hospitalizations and deaths in the United States." Overall, researchers believe pharmacogenomics will allow physicians to better tailor medicine to the needs of the individual patient. As of November 2016, the FDA has approved 204 drugs with pharmacogenetics information in its labeling. These labels may describe genotype-specific dosing instructions and risk for adverse events amongst other information.
383:. Oncogenomics is a field of study focused on the characterization of cancer–related genes. With cancer, specific information about a tumor is used to help create a personalized diagnosis and treatment plan. Pharmacogenomics is the study of how a person's genome affects their response to drugs. This field is relatively new but growing fast due in part to an increase in funding for the NIH Pharmacogenomics Research Network. Since 2001, there has been an almost 550% increase in the number of research papers in
577:(GINA). The GINA legislation prevents discrimination by health insurers and employers, but does not apply to life insurance or long-term care insurance. The passage of the Affordable Care Act in 2010 strengthened the GINA protections by prohibiting health insurance companies from denying coverage because of patient's "pre-existing conditions" and removing insurance issuers' ability to adjust premium costs based on certain factors such as genetic diseases. Given the ethical concerns about pre-symptomatic
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412:(less than 200,000 people affected in the USA) are nevertheless collectively common (affecting roughly 8-10% of the US population). Over 2500 of these diseases (including a few more common ones) have predictive genetics of sufficiently high clinical impact that they are recommended as medical genetic tests available for single genes (and in whole genome sequencing) and growing at about 200 new genetic diseases per year.
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already overloaded health care system. In theory, this might antagonize an individual to make uneducated decisions such as unhealthy lifestyle choices and family planning modifications. Negative results which may potentially be inaccurate, theoretically decrease the quality of life and mental health of the individual (such as increased depression and extensive anxiety).
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Full genome sequencing holds large promise in the world of healthcare in the potential of precise and personalized medical treatments. This use of genetic information to select appropriate drugs is known as pharmacogenomics. This technology may allow treatments to be catered to the individual and the
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sequencing was offered by Gentle for less than $ 2,000, including personal counseling along with the results. As of late 2018, over a million human genomes have been nearly completely sequenced for as little as $ 200 per person, and even under certain circumstances ultra-secure personal genomes for $
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that are so rare and/or mild sequence change that conclusions about their impact are challenging, reinforcing the need to focus on the reliable and actionable alleles in the context of clinical care. Czech medical geneticist Eva Machácková writes: "In some cases it is difficult to distinguish if the
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There is also controversy regarding the concerns with companies testing individual DNA. There are issues such as "leaking" information, the right to privacy and what responsibility the company has to ensure this does not happen. Regulation rules are not clearly laid out. What is still not determined
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or
Helicos sequencing machine can sequence 2 to 10 billion base pairs in each $ 8,000 to $ 18,000 run. The cost must also take into account personnel costs, data processing costs, legal, communications and other costs. One way to assess this is via commercial offerings. The first such whole diploid
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Cai B, Li B, Kiga N, Thusberg J, Bergquist T, Chen Y, Niknafs N, Carter H, Tokheim C, Beleva-Guthrie V, Douville C, Bhattacharya R, Yeo HTG, Fan J, Sengupta S, Kim D, Cline M, Turner T, Diekhans M, Zaucha J, Pal L, Cao C, Yu C, Yin Y, Carraro M, Giollo M, Ferrari C, Leonardi E, Tosatto SCE, Bobe J,
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Wheeler, David A; Srinivasan, Maithreyan; Egholm, Michael; Shen, Yufeng; Chen, Lei; McGuire, Amy; He, Wen; Chen, Yi-Ju; Makhijani, Vinod; Roth, G. Thomas; Gomes, Xavier; Tartaro, Karrie; Niazi, Faheem; Turcotte, Cynthia L; Irzyk, Gerard P; Lupski, James R; Chinault, Craig; Song, Xing-zhi; Liu, Yue;
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There are also three potential problems associated with the validity of personal genome kits. The first issue is the test's validity. Handling errors of the sample increases the likelihood for errors which could affect the test results and interpretation. The second affects the clinical validity,
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is a term very similar to personalized medicine in that it focuses on a patient's genes, environment, and lifestyle; however, it is utilized by
National Research Council to avoid any confusion or misinterpretations associated with the broader term. Stratified medicine is a version of personalized
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average person who needs to be educated in the dimensions of their own genomic sequence but also professionals, including physicians and science journalists, who must be provided with the knowledge required to inform and educate their patients and the public. Examples of such efforts include the
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detected in disease-causing genes becomes an increasingly important problem." In fact, researchers from the Exome
Aggregation Consortium (ExAC) project estimated the average person to carry 54 genetic mutations that previously were assumed pathogenic, i.e. having 100% penetrance, but without any
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changed its terms of service to allow law enforcement to use their service to identify suspects of "a violent crime" or identify the remains of victims. The company confirmed it was working with the FBI on at least a handful of cases. Since then, nearly 50 suspects in crimes of assault, rape or
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People need to be educated on interpreting their results and what they should be rationally taking from the experience. Concerns about customers misinterpreting health information was one of the reasons for the 2013 shutdown by the FDA of 23&Me's health analysis services. It is not only the
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As with other new technologies, doctors can order genomic tests for which some are not correctly trained to interpret the results. Many are unaware of how SNPs respond to one another. This results in presenting the client with potentially misleading and worrisome results which could strain the
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There are also concerns regarding human genome research in developing countries. The tools for conducting whole genome analyses are generally found in high-income nations, necessitating partnerships between developed and developing countries in order to study the patients affected by certain
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in the diploid human genome. Statistical analysis reveals that a coverage of approximately ten times is required to get coverage of both alleles in 90% human genome from 25 base pair reads with shotgun sequencing. This means a total of 60 billion base pairs that must be sequenced. An
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diseases. The relevant tools for sharing access to the collected data are not equally accessible across low-income nations and without an established standard for this type of research, concerns over fairness to local researchers remain unsettled.
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for $ 5,000, from June 2009. This will only be available to institutions, not individuals. Prices are expected to drop further over the next few years through economies of scale and increased competition. As of 2014, nearly complete
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is who legally owns the genome information: the company or the individual whose genome has been read. There have been published examples of personal genome information being exploited. Additional privacy concerns, related to, e.g.,
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Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F, Swan D, Weiss Solis DY, Krawitz P, Schacherer F, Schols P, Yang H, Borry P, Glusman G, Robinson PN (November 2015).
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which could affect the test's ability to detect or predict associated disorders. The third problem is the clinical utility of personal genome kits and associated risks, and the benefits of introducing them into clinical practices.
332:. The emerging market of direct-to-consumer genome sequencing services has brought new questions about both the medical efficacy and the ethical dilemmas associated with widespread knowledge of individual genetic information.
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of minors, it is likely that personal genomics will first be applied to adults who can provide consent to undergo such testing, although genome sequencing is already proving valuable for children if any symptoms are present.
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describes the field of medicine that utilizes information, often obtained through personal genomics techniques, to both predict the possibility of disease, and institute preventative measures for a particular individual.
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Automated high-throughput sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer whole genome sequencing including interpretation to consumers since 2015 for less than
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certain genetic predispositions they may have (such as personalized chemotherapy). Among the most impactful and actionable uses of personal genome information is the avoidance of hundreds of severe single-gene
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The opening of genomic medical clinics at major US hospitals has raised questions about whether these services broaden existing inequities in the US healthcare system, including from practitioners such as
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324:. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
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Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA (2016).
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is discriminating on the basis of information obtained from an individual's genome. Genetic non-discrimination laws have been enacted in some US states and at the federal level, by the
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medicine which focuses on dividing patients into subgroups based on specific responses to treatment, and identifying effective treatments for the particular group.
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The video shows the process of extracting genotypes from a human spit sample using microarrays as is done by most major direct-to-consumer genetics companies.
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Strausberg, Robert L.; Simpson, Andrew J. G.; Old, Lloyd J.; Riggins, Gregory J. (27 May 2004). "Oncogenomics and the development of new cancer therapies".
775:, which allowed investigators to compare DNA recovered from crime scenes to the DNA uploaded to the database by relatives of the suspect. In December 2018,
351:, lists a patient's genes, proteins, and environment as the primary factors analyzed to prevent, diagnose, and treat disease through personalized medicine.
212:
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detected sequence variant is a causal mutation or a neutral (polymorphic) variation without any effect on phenotype. The interpretation of rare sequence
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The cost of sequencing a human genome is dropping rapidly, due to the continual development of new, faster, cheaper DNA sequencing technologies such as "
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de Vries, Jantina; Bull, Susan J; Doumbo, Ogobara; Ibrahim, Muntaser; Mercereau-Puijalon, Odile; Kwiatkowski, Dominic; Parker, Michael (18 March 2011).
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Additional issues arise from the trade-off between public benefit from research sharing and exposure to data escape and re-identification. The
447:, has reported that the cost to sequence a whole human-sized genome has dropped from about $ 14 million in 2006 to below $ 1,500 by late 2015.
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Yuan, Ye; Nazareth, Lynne; Qin, Xiang; Muzny, Donna M; Margulies, Marcel; Weinstock, George M; Gibbs, Richard A; Rothberg, Jonathan M (2008).
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is a medical method that targets treatment structures and medicinal decisions based on a patient's predicted response or risk of disease. The
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617:, loss of anonymity, and psychological impacts, have been increasingly pointed out by the academic community as well as government agencies.
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Hunter, David J.; Khoury, Muin J.; Drazen, Jeffrey M. (10 January 2008). "Letting the Genome out of the Bottle – Will We Get Our Wish?".
645:. Another set of 59 genes vetted by the American College of Medical Genetics and Genomics (ACMG-59) are considered actionable in adults.
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and their price dropped from $ 350,000 in 2008 to $ 99,000 in 2009. This inspects 3000-fold more bases of the genome than SNP chip-based
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and stratified medicine. Although these terms are used interchangeably to describe this practice, each carries individual nuances.
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Machácková, E. (1 March 2003). "Disease-causing mutations versus neutral polymorphism: use of bioinformatics and DNA diagnosis".
2300:"Matching Phenotypes to Whole Genomes: Lessons Learned from Three Iterations of the Personal Genome Project Community Challenges"
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96:
2427:"Rethink the links between genes and disease: The ExAC database has shown that many mutations thought to be harmful are benign"
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624:(started in 2005) is among the few to make both genome sequences and corresponding medical phenotypes publicly available.
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In the United States, biomedical research containing human subjects is governed by a baseline standard of ethics known as
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presents a near-future society where personal genomics is readily available to anyone, and explores its societal impact.
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1449:"Complete Genomics to Offer $ 5,000 Human Genome as a Service Business in Q2 2009 | In Sequence | Sequencing"
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751:' own experiences and expertise as genome scientist to begin exploring some of these tremendously challenging issues.
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539:, developed the Corpasome project, and encouraged by the low prices in genome sequencing, was the first example of
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1994:"Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers"
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McCabe LL; McCabe ER (June 2001). "Postgenomic medicine. Presymptomatic testing for prediction and prevention".
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De
Cristofaro, Emiliano (17 October 2012). "Whole Genome Sequencing: Innovation Dream or Privacy Nightmare?".
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Gutmann, Amy; Wagner, James W. (1 May 2013). "Found Your DNA on the Web: Reconciling
Privacy and Progress".
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http://www.healthcarejournallr.com/the-journal/contents-index/features/563-what-a-tangled-web-we-weave.html}
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Personal genomics have also allowed investigators to identify previously unknown bodies using GEDmatch (the
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Typical cost of sequencing a human-sized genome, on a logarithmic scale. Note the drastic trend faster than
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0 each. In those two cases, the actual cost is reduced because the data can be monetized for researchers.
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Ball M, Hoskins R, Repo S, Church G, Brenner S, Moult J, Gough J, Stanke M, Karchin R, Mooney SD (2016).
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which endanger about 5% of newborns (with costs up to 20 million dollars), for example elimination of
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2041:"One in a Billion. Nic Volker case may be the leading edge of a wave moving across genetic medicine"
832: – Determining nearly the entirety of the DNA sequence of an organism's genome at a single time
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1577:"Offering free DNA sequencing, Nebula Genomics opens for business. But there's an itsy-bitsy catch"
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Roberts, J. Scott; Gornick, Michele C. et al . Public Health
Genomics. Retrieved 20 February 2017/
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in 1987. These arrests were based on the personal genomics uploaded to an open-source database,
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A major use of personal genomics outside the realm of health is that of ancestry analysis (see
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2234:"The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes"
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Service at a depth of 30X for $ 48,000 per genome. In 2010, they cut the price to $ 19,500.
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475:, identifying both novel and known sequence variants, some relevant to personal health or
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1520:"Illumina launches personal genome sequencing service for $ 48,000 : Genetic Future"
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820: – Single nucleotide in genomic DNA at which different sequence alternatives exist
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and include environmental components in the assessment. Diseases which are individually
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Lunshof, Jeantine; Mardis Elaine . Future
Medicine Magazine. Retrieved 30 March 2012/
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2013:
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1089:"Pharmacogenetics in clinical practice: how far have we come and where are we going?"
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712:, and the MedSeq, BabySeq and MilSeq projects of Genomes to People, an initiative of
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1596:"How do your 20,000 genes determine so many wildly different traits? They multitask"
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2586:"Individual Freedom, Public Safety, and the Complex Frontier of Personal Genomics"
1953:"Carrier testing in minors: a systematic review of guidelines and position papers"
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sites to offer it as a service, to the extent that one may submit one's genome to
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1192:"DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing Program"
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There are various subcategories of the concept of personalized medicine such as
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850: – Medical model that tailors medical practices to the individual patient
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3269:
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2712:
2541:
Corpas, Manuel (6 January 2012). "A Family
Experience of Personal Genomics".
856: – Computational and mathematical modeling of complex biological systems
543:
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Matrix-assisted laser desorption ionization-time of flight mass spectrometer
2806:"Authorities solve cold case of war hero who hid behind dead boy's identity"
2113:. Presidential Commission for the Study of Bioethical Issues. Archived from
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1494:"MSN | Outlook, Office, Skype, Bing, Breaking News, and Latest Videos"
1426:"Illumina Cutting Personal Genome Sequencing Price by 60% | GPlus.com"
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805:
642:
409:
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The Busy
Physician's Guide to Genetics, Genomics and Personalized Medicine
902: – Hiding or perplexing genetic information by a computational method
727:), including evolutionary origin information such as neanderthal content.
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2922:
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788:
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838: – Computational analysis of large, complex sets of biological data
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3308:
3303:
2851:
2639:"To Catch a Killer: A Fake Profile on a DNA Site and a Pristine Sample"
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1992:
Borry P; Stultiens L; Nys H; Cassiman JJ; et al. (November 2006).
472:
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if you can. Unsourced or poorly sourced material may be challenged and
1823:"Beyond 23andMe: DNA sequencing clinics for the healthy (And wealthy)"
1759:"Crowdsourced direct-to-consumer genomic analysis of a family quartet"
1355:"Knome Adds Exome Sequencing, Starts Offering Services to Researchers"
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genome sequencing (6 billion bp, 3 billion from each parent) was from
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1950:
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2683:"What does the Golden State Killer arrest mean for genetic privacy?"
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2056:"Ethical issues in human genomics research in developing countries"
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1991:
1472:"Complete Genomics Drives Down Cost of Genome Sequence to $ 5,000"
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1138:"Genomics - Table of Pharmacogenomic Biomarkers in Drug Labeling"
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2114:
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The decreasing cost in general of genomic mapping has permitted
2753:"'Buck Skin Girl' Case Break Is Success of New DNA Doe Project"
384:
285:
2038:
1837:"Genetics and Health Insurance State Anti-Discrimination Laws"
1340:"Knome Lowers Price of Full Genome From $ 350,000 to $ 99,000"
1951:
Borry P; Fryns JP; Schotsmans P; Dierickx K (February 2006).
1403:
1314:"True Single Molecule Sequencing (tSMS): Helicos BioSciences"
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At the same time, full sequencing of the genome can identify
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Branch of genomics concerned with the genome of an individual
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Arango, Tim; Goldman, Adam; Fuller, Thomas (27 April 2018).
1909:
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The
National Human Genome Research Institute, an arm of the
415:
400:
Disease risk may be calculated based on genetic markers and
3129:
1910:
Nelson RM; Botkjin JR; Kodish ED; et al. (June 2001).
1622:"openSNP–A Crowdsourced Web Resource for Personal Genomics"
1244:
1006:
2702:"FamilyTreeDNA Admits to Sharing Genetic Data With F.B.I."
2039:
Mark Johnson & Kathleen Gallagher (27 February 2011).
2779:"DNA Doe Project IDs 2001 Motel Suicide, Using Genealogy"
2053:
957:"Predictive medicine - Latest research and news | Nature"
808: – Complete set of nucleic acid sequences for humans
767:, and William Earl Talbott II, the prime suspect in the
1558:"Now You Can Sequence Your Whole Genome For Just $ 200"
908: – DNA tests performed without definite indication
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375:
Examples of the use of personalized medicine include
1681:"Game of Genomes, Episode 13: Answers and Questions"
2636:
1912:"Ethical issues with genetic testing in pediatrics"
763:, the prime suspect for the Golden State Killer or
2858:
2465:
1874:
2111:"Privacy and Progress in Whole Genome Sequencing"
862: – Database of personal genomics information
814: – International scientific research project
780:murder have been arrested using the same method.
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2833:
2735:"Criminal Suspects Deserve Genetic Privacy, Too"
2658:"The Coming Wave of Murders Solved by Genealogy"
1855:National Human Genome Research Institute (NHGRI)
1225:National Human Genome Research Institute (NHGRI)
558:, director of the Preventive Genomics Clinic at
2907:. CreateSpace Independent Publishing Platform.
1392:
826: – Large-scale comparison of DNA sequences
2882:"What happened when I had my genome sequenced"
1400:"Individual genome sequencing – Illumina, Inc"
981:MRC, Medical Research Council (3 March 2016).
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627:
308:stage employs different techniques, including
49:Please review the contents of the article and
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2172:
2138:"Privacy loophole found in genetic databases"
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2424:
2346:: CS1 maint: multiple names: authors list (
2282:: CS1 maint: multiple names: authors list (
2135:
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1189:
769:murders of Jay Cook and Tanya Van Cuylenborg
3425:Matrix-assisted laser desorption ionization
2865:(1st ed.). Springer Scientific Press.
2381:"ACMG Updates Secondary Findings Gene List"
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891: – Non-consensual fertility treatments
335:
3630:International Society of Genetic Genealogy
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1136:Research, Center for Drug Evaluation and.
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2363:"Genome sequencing: A costly way to save"
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1968:
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1342:. The Genetic Genealogist. 11 April 2009.
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575:Genetic Information Nondiscrimination Act
483:announced the launch of its own Personal
416:Cost of sequencing an individual's genome
404:for common medical conditions, which are
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2500:
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1200:National Human Genome Research Institute
1051:
669:
419:
1221:"The Cost of Sequencing a Human Genome"
1086:
880: – Health based on racial identity
658:apparent negative health presentation.
3754:
2540:
1701:
1378:"Genome Sequencing for the Rest of Us"
1375:
535:. The Corpas family, led by scientist
213:Y-chromosome haplogroups by population
3526:
3467:European Molecular Biology Laboratory
3133:
2959:
2933:
2655:
2632:
2630:
2206:
2204:
2105:
2103:
2101:
1446:
1352:
1248:"JDW-genome-supp-mat-march-proof.doc"
1196:Large-Scale Genome Sequencing Program
1183:
1163:"NIH Office of Rare Disease Research"
1060:
2732:
2699:
1711:Source Code for Biology and Medicine
1135:
1087:Johnson, Julie A (5 December 2016).
925:
923:
906:Elective genetic and genomic testing
316:(typically 0.02% of the genome), or
18:
980:
702:Personal Genetics Education Project
13:
2880:Cadwalladr, Carole (8 June 2013).
2627:
2201:
2098:
1575:Sharon Begley (15 November 2018).
1556:Megan Molteni (19 November 2018).
1522:. Scienceblogs.com. Archived from
1470:Lauerman, John (5 February 2009).
1376:Harmon, Katherine (28 June 2010).
1190:Wetterstrand, Kris (21 May 2012).
730:
594:
445:U.S. National Institutes of Health
432:came online at sequencing centers.
14:
3773:
2859:Sweet K; Michaelis R (May 2011).
2700:Haag, Matthew (4 February 2019).
2593:Healthcare Journal of New Orleans
2584:Copeland, CS (March–April 2014).
2510:Healthcare Journal of Little Rock
1809:"Is Preventive Genomics Elitist?"
1402:. Everygenome.com. Archived from
920:
565:
3739:
3727:
3700:
3699:
3505:
3504:
3492:
2834:Dudley & Karczewski (2013).
2010:10.1111/j.1399-0004.2006.00692.x
1447:Karow, Julia (4 November 2008).
1316:. Helicosbio.com. Archived from
931:"NCI Dictionary of Cancer Terms"
878:Population groups in biomedicine
868: – Study of RNA transcripts
655:variants of unknown significance
498:announced that it would provide
115:
23:
3445:Chromosome conformation capture
3016:Single-nucleotide polymorphisms
2827:
2804:Caniglia, John (21 June 2018).
2797:
2771:
2745:
2726:
2693:
2675:
2649:
2577:
2534:
2525:
2516:
2494:
2468:New England Journal of Medicine
2459:
2418:
2391:
2373:
2354:
2290:
2225:
2166:
2129:
2047:
2032:
1985:
1944:
1903:
1868:
1843:
1829:
1815:
1801:
1749:
1695:
1613:
1594:Kaplan, Sarah (17 April 2016).
1587:
1568:
1549:
1538:
1512:
1486:
1440:
1369:
1346:
1332:
1306:
1238:
1213:
589:
402:genome-wide association studies
3119:Human Genome Diversity Project
2501:Copeland, CS (May–June 2014).
1169:
1155:
1129:
1080:
1000:
974:
949:
844: – Discipline in genetics
818:Single-nucleotide polymorphism
735:The 1997 science fiction film
519:scientific endeavours such as
438:next-generation DNA sequencing
310:single-nucleotide polymorphism
51:add the appropriate references
1:
3473:National Institutes of Health
3078:Genome-wide association study
2543:Journal of Genetic Counseling
2503:"What a Tangled Web We Weave"
2043:. Milwaukee Journal Sentinel.
1889:10.1016/S0095-5108(05)70094-4
1707:"Crowdsourcing the Corpasome"
1679:Zimmer, Carl (25 July 2016).
913:
754:
428:beginning in January 2008 as
349:National Institutes of Health
3159:
3109:International HapMap Project
2733:Bala, Nila (18 March 2019).
2656:Zhang, Sarah (19 May 2018).
2425:Check Hayden, Erika (2016).
2136:Check Hayden, Erika (2013).
1647:10.1371/journal.pone.0089204
1353:Karow, Julia (19 May 2009).
866:Transcriptomics technologies
718:Brigham and Women's Hospital
560:Brigham and Women's Hospital
387:related to the search terms
7:
3389:Structure-based drug design
2840:. Oxford University Press.
2837:Exploring Personal Genomics
1063:"What is pharmacogenomics?"
798:
666:Direct-to-consumer genetics
628:Personalized genome utility
173:Most recent common ancestor
36:reliable medical references
10:
3778:
2361:Randy Shore (4 May 2014).
1620:Greshake, Bastian (2014).
1428:. Glgroup.com. 4 June 2010
1061:Reference, Genetics Home.
793:Joseph Newton Chandler III
598:
300:and interpretation of the
3695:
3659:
3638:
3622:
3596:
3560:
3488:
3479:Wellcome Sanger Institute
3453:
3402:
3362:
3250:
3167:
3096:
3065:
3034:
2988:
2967:
2555:10.1007/s10897-011-9473-7
2251:10.1186/s13742-016-0148-z
2151:10.1038/nature.2013.12237
1776:10.1186/s12864-015-1973-7
935:National Cancer Institute
874: – Suffix in biology
759:In 2018, police arrested
345:National Cancer Institute
42:or relies too heavily on
3554:Genealogical DNA testing
3435:Microfluidic-based tools
3280:Human Connectome Project
3212:Human Microbiome Project
2613:. Cambridge: DNAdigest.
1851:"Genetic Discrimination"
747:is a novel that uses Dr
336:In personalized medicine
3420:Electrospray ionization
3292:Human Epigenome Project
3073:Whole genome sequencing
3006:Human genetic variation
1970:10.1038/sj.ejhg.5201509
1929:10.1542/peds.107.6.1451
1067:Genetics Home Reference
830:Whole genome sequencing
622:Personal Genome Project
3461:DNA Data Bank of Japan
3377:Human proteome project
3180:Computational genomics
2400:Casopis Lekaru Ceskych
2175:Hastings Center Report
2073:10.1186/1472-6939-12-5
1724:10.1186/1751-0473-8-13
714:Harvard Medical School
692:
615:genetic discrimination
571:Genetic discrimination
529:New York Genome Center
500:full genome sequencing
485:Full Genome Sequencing
433:
430:post-Sanger sequencing
347:or NCI, an arm of the
322:full genome sequencing
304:of an individual. The
3440:Isotope affinity tags
3394:Expression proteomics
3042:Personalized medicine
1380:. Scientific American
983:"Stratified medicine"
848:Personalized medicine
761:Joseph James DeAngelo
683:
423:
341:Personalized medicine
219:Genealogical DNA test
3200:Human Genome Project
3185:Comparative genomics
3114:1000 Genomes Project
3104:Human Genome Project
3052:Genetic epidemiology
2480:10.1056/NEJMp0708162
812:Human Genome Project
450:There are 6 billion
3651:Surname DNA project
3646:Genographic Project
3410:2-D electrophoresis
3384:Call-map proteomics
3242:Structural genomics
3229:Population genomics
3190:Functional genomics
3066:Analysis techniques
3047:Predictive medicine
3021:Identity by descent
2996:Biological specimen
2980:Biological database
2854:on 1 December 2012.
2387:. 17 November 2016.
2117:on 22 November 2016
1638:2014PLoSO...989204G
1600:The Washington Post
1276:10.1038/nature06884
1267:2008Natur.452..872W
1029:10.1038/nature02627
1021:2004Natur.429..469S
824:Population genomics
708:collaboration with
364:Predictive medicine
356:predictive medicine
292:concerned with the
234:Genographic Project
224:Surname DNA project
184:Human mitochondrial
155:Population genetics
65:"Personal genomics"
3364:Structural biology
3175:Cognitive genomics
2705:The New York Times
2643:The New York Times
2316:10.1002/humu.23265
2060:BMC Medical Ethics
1957:Eur. J. Hum. Genet
1811:. 21 October 2019.
1406:on 19 October 2011
884:Genomic counseling
693:
457:Applied Biosystems
434:
369:Precision medicine
360:precision medicine
189:Human Y-chromosome
3715:
3714:
3604:Bennett Greenspan
3588:Genetic genealogy
3520:
3519:
3415:Mass spectrometer
3224:Personal genomics
3127:
3126:
3001:De-identification
2961:Personal genomics
2872:978-94-007-1147-1
2783:Forensic Magazine
2757:Forensic Magazine
1825:. 16 August 2019.
1500:on 25 August 2009
1320:on 4 October 2011
1261:(7189): 872–876.
1105:10.2217/pgs.13.52
1015:(6990): 469–474.
937:. 2 February 2011
895:Personal medicine
725:Genetic Genealogy
681:
639:Tay Sachs Disease
635:genetic disorders
531:, as examples of
492:Complete Genomics
282:consumer genetics
278:Personal genomics
275:
274:
229:Personal genomics
141:Genetic genealogy
124:
123:
100:
3769:
3744:
3743:
3742:
3732:
3731:
3723:
3703:
3702:
3547:
3540:
3533:
3524:
3523:
3508:
3507:
3496:
3495:
3339:Pharmacogenomics
3334:Pharmacogenetics
3154:
3147:
3140:
3131:
3130:
3057:Pharmacogenomics
3026:Genetic disorder
2954:
2947:
2940:
2931:
2930:
2926:
2896:
2894:
2892:
2876:
2855:
2850:. Archived from
2821:
2820:
2818:
2816:
2801:
2795:
2794:
2792:
2790:
2775:
2769:
2768:
2766:
2764:
2749:
2743:
2742:
2730:
2724:
2723:
2721:
2719:
2697:
2691:
2690:
2689:. 26 April 2018.
2679:
2673:
2672:
2670:
2668:
2653:
2647:
2646:
2634:
2625:
2624:
2603:
2597:
2596:
2590:
2581:
2575:
2574:
2538:
2532:
2529:
2523:
2520:
2514:
2513:
2507:
2498:
2492:
2491:
2463:
2457:
2456:
2446:
2422:
2416:
2415:
2395:
2389:
2388:
2377:
2371:
2370:
2358:
2352:
2351:
2345:
2337:
2327:
2310:(9): 1266–1276.
2294:
2288:
2287:
2281:
2273:
2263:
2253:
2229:
2223:
2222:
2220:
2208:
2199:
2198:
2187:10.1002/hast.162
2170:
2164:
2163:
2153:
2133:
2127:
2126:
2124:
2122:
2107:
2096:
2095:
2085:
2075:
2051:
2045:
2044:
2036:
2030:
2029:
1989:
1983:
1982:
1972:
1948:
1942:
1941:
1931:
1907:
1901:
1900:
1872:
1866:
1865:
1863:
1861:
1847:
1841:
1840:
1833:
1827:
1826:
1819:
1813:
1812:
1805:
1799:
1798:
1788:
1778:
1753:
1747:
1746:
1736:
1726:
1699:
1693:
1692:
1690:
1688:
1676:
1670:
1669:
1659:
1649:
1617:
1611:
1610:
1608:
1606:
1591:
1585:
1584:
1572:
1566:
1565:
1553:
1547:
1542:
1536:
1535:
1533:
1531:
1516:
1510:
1509:
1507:
1505:
1496:. Archived from
1490:
1484:
1483:
1481:
1479:
1467:
1461:
1460:
1458:
1456:
1444:
1438:
1437:
1435:
1433:
1422:
1416:
1415:
1413:
1411:
1396:
1390:
1389:
1387:
1385:
1373:
1367:
1366:
1364:
1362:
1350:
1344:
1343:
1336:
1330:
1329:
1327:
1325:
1310:
1304:
1303:
1301:
1299:
1278:
1252:
1242:
1236:
1235:
1233:
1231:
1217:
1211:
1210:
1208:
1206:
1187:
1181:
1180:
1173:
1167:
1166:
1159:
1153:
1152:
1150:
1148:
1133:
1127:
1126:
1116:
1093:Pharmacogenomics
1084:
1078:
1077:
1075:
1073:
1058:
1049:
1048:
1004:
998:
997:
995:
993:
978:
972:
971:
969:
967:
953:
947:
946:
944:
942:
927:
860:TIARA (database)
765:East Area Rapist
682:
548:personal genomes
479:. In June 2009,
394:pharmacogenetics
389:pharmacogenomics
381:pharmacogenomics
267:
260:
253:
128:
127:
119:
118:
110:
107:
101:
99:
58:
27:
26:
19:
3777:
3776:
3772:
3771:
3770:
3768:
3767:
3766:
3752:
3751:
3750:
3740:
3738:
3726:
3718:
3716:
3711:
3691:
3677:Family Tree DNA
3655:
3634:
3618:
3592:
3556:
3551:
3521:
3516:
3484:
3449:
3398:
3358:
3354:Transcriptomics
3344:Systems biology
3329:Paleopolyploidy
3265:Cheminformatics
3246:
3163:
3158:
3128:
3123:
3092:
3088:Genetic testing
3061:
3030:
3011:Genetic linkage
2984:
2968:Data collection
2963:
2958:
2915:
2890:
2888:
2873:
2848:
2830:
2825:
2824:
2814:
2812:
2802:
2798:
2788:
2786:
2777:
2776:
2772:
2762:
2760:
2759:. 16 April 2018
2751:
2750:
2746:
2731:
2727:
2717:
2715:
2698:
2694:
2681:
2680:
2676:
2666:
2664:
2654:
2650:
2635:
2628:
2621:
2604:
2600:
2588:
2582:
2578:
2539:
2535:
2530:
2526:
2521:
2517:
2505:
2499:
2495:
2464:
2460:
2444:10.1038/538140a
2423:
2419:
2396:
2392:
2379:
2378:
2374:
2359:
2355:
2339:
2338:
2295:
2291:
2275:
2274:
2230:
2226:
2209:
2202:
2171:
2167:
2134:
2130:
2120:
2118:
2109:
2108:
2099:
2052:
2048:
2037:
2033:
1990:
1986:
1949:
1945:
1908:
1904:
1873:
1869:
1859:
1857:
1849:
1848:
1844:
1835:
1834:
1830:
1821:
1820:
1816:
1807:
1806:
1802:
1754:
1750:
1700:
1696:
1686:
1684:
1677:
1673:
1618:
1614:
1604:
1602:
1592:
1588:
1573:
1569:
1554:
1550:
1543:
1539:
1529:
1527:
1518:
1517:
1513:
1503:
1501:
1492:
1491:
1487:
1477:
1475:
1468:
1464:
1454:
1452:
1445:
1441:
1431:
1429:
1424:
1423:
1419:
1409:
1407:
1398:
1397:
1393:
1383:
1381:
1374:
1370:
1360:
1358:
1351:
1347:
1338:
1337:
1333:
1323:
1321:
1312:
1311:
1307:
1297:
1295:
1250:
1243:
1239:
1229:
1227:
1219:
1218:
1214:
1204:
1202:
1188:
1184:
1175:
1174:
1170:
1161:
1160:
1156:
1146:
1144:
1134:
1130:
1085:
1081:
1071:
1069:
1059:
1052:
1005:
1001:
991:
989:
979:
975:
965:
963:
955:
954:
950:
940:
938:
929:
928:
921:
916:
911:
889:Fertility fraud
854:Systems biology
801:
757:
733:
731:Popular culture
689:for genotyping.
670:
668:
630:
607:The Common Rule
603:
601:Genetic privacy
597:
595:Genetic privacy
592:
579:genetic testing
568:
556:Robert C. Green
541:citizen science
533:citizen science
418:
338:
271:
215:
192:
187:
181:
179:DNA haplogroups
120:
116:
111:
105:
102:
59:
48:
44:primary sources
28:
24:
17:
12:
11:
5:
3775:
3765:
3764:
3749:
3748:
3736:
3713:
3712:
3710:
3709:
3696:
3693:
3692:
3690:
3689:
3684:
3679:
3674:
3669:
3663:
3661:
3657:
3656:
3654:
3653:
3648:
3642:
3640:
3636:
3635:
3633:
3632:
3626:
3624:
3620:
3619:
3617:
3616:
3611:
3606:
3600:
3598:
3594:
3593:
3591:
3590:
3585:
3572:
3570:Types of tests
3567:
3561:
3558:
3557:
3550:
3549:
3542:
3535:
3527:
3518:
3517:
3515:
3514:
3502:
3489:
3486:
3485:
3483:
3482:
3476:
3470:
3464:
3457:
3455:
3451:
3450:
3448:
3447:
3442:
3437:
3432:
3427:
3422:
3417:
3412:
3406:
3404:
3403:Research tools
3400:
3399:
3397:
3396:
3391:
3386:
3381:
3380:
3379:
3368:
3366:
3360:
3359:
3357:
3356:
3351:
3349:Toxicogenomics
3346:
3341:
3336:
3331:
3326:
3321:
3316:
3311:
3306:
3301:
3296:
3295:
3294:
3284:
3283:
3282:
3272:
3267:
3262:
3256:
3254:
3252:Bioinformatics
3248:
3247:
3245:
3244:
3239:
3231:
3226:
3221:
3216:
3215:
3214:
3204:
3203:
3202:
3195:Genome project
3192:
3187:
3182:
3177:
3171:
3169:
3165:
3164:
3157:
3156:
3149:
3142:
3134:
3125:
3124:
3122:
3121:
3116:
3111:
3106:
3100:
3098:
3097:Major projects
3094:
3093:
3091:
3090:
3085:
3080:
3075:
3069:
3067:
3063:
3062:
3060:
3059:
3054:
3049:
3044:
3038:
3036:
3032:
3031:
3029:
3028:
3023:
3018:
3013:
3008:
3003:
2998:
2992:
2990:
2989:Field concepts
2986:
2985:
2983:
2982:
2977:
2971:
2969:
2965:
2964:
2957:
2956:
2949:
2942:
2934:
2928:
2927:
2914:978-1539783725
2913:
2897:
2877:
2871:
2856:
2847:978-0199644490
2846:
2829:
2826:
2823:
2822:
2796:
2770:
2744:
2739:Slate Magazine
2725:
2692:
2674:
2648:
2626:
2620:978-1539783725
2619:
2598:
2576:
2549:(3): 368–391.
2533:
2524:
2515:
2493:
2474:(2): 105–107.
2458:
2417:
2406:(3): 150–153.
2390:
2372:
2353:
2304:Human Mutation
2289:
2224:
2200:
2165:
2128:
2097:
2046:
2031:
1984:
1943:
1922:(6): 1451–55.
1902:
1877:Clin Perinatol
1867:
1842:
1828:
1814:
1800:
1748:
1703:Corpas, Manuel
1694:
1671:
1612:
1586:
1567:
1548:
1537:
1526:on 6 June 2011
1511:
1485:
1462:
1439:
1417:
1391:
1368:
1345:
1331:
1305:
1237:
1212:
1182:
1168:
1154:
1128:
1099:(7): 835–843.
1079:
1050:
999:
973:
961:www.nature.com
948:
918:
917:
915:
912:
910:
909:
903:
900:DNA encryption
897:
892:
886:
881:
875:
869:
863:
857:
851:
845:
839:
836:Bioinformatics
833:
827:
821:
815:
809:
802:
800:
797:
777:Family TreeDNA
756:
753:
732:
729:
667:
664:
629:
626:
599:Main article:
596:
593:
591:
588:
567:
566:Ethical issues
564:
417:
414:
406:multifactorial
337:
334:
314:analysis chips
273:
272:
270:
269:
262:
255:
247:
244:
243:
242:
241:
236:
231:
226:
221:
216:
211:
206:
205:
204:Related topics
201:
200:
199:
198:
193:
177:
175:
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3614:Anne Wojcicki
3612:
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3609:Spencer Wells
3607:
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3454:Organizations
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3324:Nutrigenomics
3322:
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3312:
3310:
3307:
3305:
3302:
3300:
3297:
3293:
3290:
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3278:
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3273:
3271:
3270:Chemogenomics
3268:
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2019:
2015:
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1976:
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1883:(2): 425–34.
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650:polymorphisms
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544:crowd sourced
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537:Manuel Corpas
534:
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496:Mountain View
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67: –
66:
62:
61:Find sources:
56:
52:
46:
45:
41:
37:
32:This article
30:
21:
20:
3704:
3509:
3497:
3319:Microbiomics
3314:Metabolomics
3275:Connectomics
3234:
3223:
3207:Metagenomics
3035:Applications
2960:
2904:
2889:. Retrieved
2886:The Guardian
2885:
2861:
2852:the original
2836:
2828:Bibliography
2813:. Retrieved
2809:
2799:
2787:. Retrieved
2785:. 9 May 2018
2782:
2773:
2761:. Retrieved
2756:
2747:
2738:
2728:
2716:. Retrieved
2704:
2695:
2686:
2677:
2665:. Retrieved
2662:The Atlantic
2661:
2651:
2642:
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2342:cite journal
2307:
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2278:cite journal
2241:
2237:
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2181:(3): 15–18.
2178:
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2131:
2119:. Retrieved
2115:the original
2063:
2059:
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2034:
2001:
1997:
1987:
1963:(2): 133–8.
1960:
1956:
1946:
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1880:
1876:
1870:
1858:. Retrieved
1854:
1845:
1831:
1817:
1803:
1769:(910): 910.
1766:
1763:BMC Genomics
1762:
1751:
1714:
1710:
1697:
1685:. Retrieved
1674:
1629:
1625:
1615:
1603:. Retrieved
1599:
1589:
1580:
1570:
1561:
1551:
1540:
1528:. Retrieved
1524:the original
1514:
1502:. Retrieved
1498:the original
1488:
1476:. Retrieved
1465:
1453:. Retrieved
1442:
1430:. Retrieved
1420:
1408:. Retrieved
1404:the original
1394:
1382:. Retrieved
1371:
1359:. Retrieved
1348:
1334:
1322:. Retrieved
1318:the original
1308:
1296:. Retrieved
1258:
1254:
1240:
1228:. Retrieved
1224:
1215:
1203:. Retrieved
1195:
1185:
1177:"Gene Tests"
1171:
1157:
1145:. Retrieved
1141:
1131:
1096:
1092:
1082:
1070:. Retrieved
1066:
1012:
1008:
1002:
990:. Retrieved
986:
976:
964:. Retrieved
960:
951:
939:. Retrieved
934:
806:Human genome
782:
758:
742:
736:
734:
722:
704:(pgEd), the
698:
694:
684:
660:
647:
643:Dor Yeshorim
631:
619:
611:
604:
590:Other issues
584:
569:
552:
546:analysis of
513:genealogical
510:
489:
449:
442:
435:
399:
392:
388:
377:oncogenomics
374:
368:
363:
353:
339:
326:
281:
277:
276:
228:
125:
103:
93:
86:
79:
72:
60:
40:verification
33:
3672:AncestryDNA
3287:Epigenomics
3219:Pangenomics
2905:Perfect DNA
2718:11 February
2611:Perfect DNA
2238:GigaScience
2121:30 November
1998:Clin. Genet
1474:. Bloomberg
1451:. GenomeWeb
1361:24 February
1357:. GenomeWeb
1142:www.fda.gov
789:Lyle Stevik
744:Perfect DNA
706:Smithsonian
687:microarrays
426:Moore's law
34:needs more
3687:MyHeritage
3682:Living DNA
3575:Haplogroup
3372:Proteomics
3309:Lipidomics
3304:Immunomics
2923:1539783723
1916:Pediatrics
1860:5 December
1530:19 October
1478:19 October
1455:19 October
1432:19 October
1410:19 October
1324:19 October
1298:19 October
1230:5 December
1147:5 December
1072:5 December
992:5 December
966:5 December
941:5 December
914:References
755:Other uses
473:genotyping
452:base pairs
306:genotyping
294:sequencing
160:Haplogroup
106:April 2012
76:newspapers
3623:Societies
3579:Haplotype
3565:Procedure
3299:Glycomics
3083:SNP array
2713:0362-4331
2385:GenomeWeb
2244:(1): 42.
2218:1210.4820
2160:211729032
1717:(1): 13.
1687:27 August
1605:27 August
1384:13 August
490:In 2009,
164:Haplotype
3762:Genomics
3756:Category
3746:Medicine
3706:Category
3660:Services
3639:Projects
3583:Subclade
3511:Category
3237:genomics
3161:Genomics
2903:(2016).
2609:(2016).
2571:10845045
2563:22223063
2488:18184955
2453:27734882
2412:12756842
2334:28544481
2270:27724973
2195:23650063
2092:21418562
2018:17026616
1979:16267502
1938:11389275
1897:11499063
1795:26547235
1743:23799911
1705:(2013).
1666:24647222
1626:PLOS ONE
1285:18421352
1123:23651030
1045:37628107
1037:15164073
842:Genomics
799:See also
773:GEDmatch
525:DNA.land
481:Illumina
477:ancestry
464:Illumina
298:analysis
290:genomics
196:Genomics
168:Subclade
147:Concepts
133:a series
131:Part of
3734:Biology
3720:Portals
3667:23andMe
3260:Biochip
2975:Biobank
2891:10 July
2815:22 June
2789:22 June
2763:22 June
2667:22 June
2325:5645203
2261:5057367
2083:3076260
2026:7066285
1786:4636840
1734:3706263
1657:3960092
1634:Bibcode
1504:11 June
1293:4429736
1263:Bibcode
1114:3697735
1017:Bibcode
738:GATTACA
527:at the
521:OpenSNP
330:$ 1,000
318:partial
284:is the
90:scholar
55:removed
3597:People
3168:Fields
2921:
2911:
2869:
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2451:
2431:Nature
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1255:Nature
1205:24 May
1121:
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1009:Nature
685:Using
385:PubMed
312:(SNP)
302:genome
286:branch
92:
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3475:(USA)
3235:Socio
2589:(PDF)
2567:S2CID
2506:(PDF)
2213:arXiv
2156:S2CID
2066:: 5.
2022:S2CID
1562:Wired
1289:S2CID
1251:(PDF)
1041:S2CID
872:Omics
710:NHGRI
505:exome
469:Knome
460:SOLiD
239:ISOGG
97:JSTOR
83:books
3499:List
3481:(UK)
3469:(EU)
3463:(JP)
2919:ASIN
2909:ISBN
2893:2013
2867:ISBN
2842:ISBN
2817:2018
2791:2018
2765:2018
2720:2019
2709:ISSN
2687:STAT
2669:2018
2615:ISBN
2559:PMID
2484:PMID
2449:PMID
2408:PMID
2348:link
2330:PMID
2284:link
2266:PMID
2191:PMID
2123:2016
2088:PMID
2014:PMID
1975:PMID
1934:PMID
1893:PMID
1862:2016
1791:PMID
1739:PMID
1689:2016
1662:PMID
1607:2016
1581:Stat
1532:2011
1506:2009
1480:2011
1457:2011
1434:2011
1412:2011
1386:2010
1363:2010
1326:2011
1300:2011
1281:PMID
1232:2016
1207:2012
1149:2016
1119:PMID
1074:2016
1033:PMID
994:2016
968:2016
943:2016
791:and
716:and
641:via
410:rare
391:and
379:and
69:news
38:for
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2006:doi
1965:doi
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1920:107
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