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1000 Genomes Project

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Data generated by the 1000 Genomes Project is widely used by the genetics community, making the first 1000 Genomes Project one of the most cited papers in biology. To support this user community, the project held a community analysis meeting in July 2012 that included talks highlighting key project
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It was found that on average, each person carries around 250–300 loss-of-function variants in annotated genes and 50-100 variants previously implicated in inherited disorders. Based on the two trios, it is estimated that the rate of de novo germline mutation is approximately 10 per base per
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Almost 10 billion bases were to be sequenced per day over a period of the two year production phase, equating to more than two human genomes every 24 hours. The intended sequence dataset was to comprise 6 trillion DNA bases, 60-fold more sequence data than what has been published in
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at low coverage (2×). For the second pilot study, the genomes of two nuclear families (both parents and an adult child) are going to be sequenced with deep coverage (20× per genome). The third pilot study involves sequencing the coding regions
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can be used to reliably detect signatures of selection and may help to identify genes that might underlie variation in disease resistance or drug metabolism. Such insights could improve understanding of
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for common diseases are being carried out. Furthermore, the samples do not need to have medical or phenotype information since the proposed catalogue will be a basic resource on human variation.
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To determine the final design of the full project three pilot studies were to be carried out within the first year of the project. The first pilot intends to genotype 180 people of 3
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Complying with extensive ethical procedures, the 1000 Genomes Project will then use samples from volunteer donors. The following populations will be included in the study:
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The 1000 Genomes Project was designed to bridge the gap of knowledge between rare genetic variants that have a severe effect predominantly on simple traits (e.g.
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It was estimated that the project would likely cost more than $ 500 million if standard DNA sequencing technologies were used. Several newer technologies (e.g.
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of at least one thousand anonymous healthy participants from a number of different ethnic groups within the following three years, using advancements in
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Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L (March 2008). "Natural selection has driven population differentiation in modern humans".
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EE Harris et al., The molecular signature of selection underlying human adaptations, Yearbook of Physical Anthropology 49: 89-130 (2006)
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relating genetic variation to disease. The consortium aimed to discover >95 % of the variants (e.g. SNPs, CNVs, indels) with
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discoveries, their impact on population genetics and human disease studies, and summaries of other large-scale sequencing studies.
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Many rare variations, restricted to closely related groups, were identified, and eight structural-variation classes were analyzed.
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Locations of population samples of 1000 Genomes Project. Each circle represents the number of sequences in the final release.
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JC Long, Human Genetic Variation: The mechanisms and results of microevolution, American Anthropological Association (2004)
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collection will be sequenced. It will be useful to focus on samples that have additional data available (such as
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as low as 1% across the genome and 0.1-0.5% in gene regions, as well as to estimate the population frequencies,
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Based on the overall goals for the project, the samples will be chosen to provide power in populations where
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Changes in the number and order of genes (A-D) create genetic diversity within and between populations.
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freely accessible through public databases to the scientific community and the general public alike.
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Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. (October 2015).
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Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, et al. (November 2012).
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The project united multidisciplinary research teams from institutes around the world, including
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Bamshad M, Wooding SP (February 2003). "Signatures of natural selection in the human genome".
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Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, et al. (October 2015).
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consists of approximately 3 billion DNA base pairs and is estimated to carry around 20,000
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Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. (November 2006).
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reported results and the completion of the project and opportunities for future research.
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http://www.1000genomes.org/sites/1000genomes.org/files/docs/1000Genomes-MeetingReport.pdf
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G Spencer, International Consortium Announces the 1000 Genomes Project, EMBARGOED (2008)
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Anzai T, Shiina T, Kimura N, Yanagiya K, Kohara S, Shigenari A, et al. (June 2003).
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Please help update this article to reflect recent events or newly available information.
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Please help update this article to reflect recent events or newly available information.
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Meeting Report: A Workshop to Plan a Deep Catalog of Human Genetic Variation, (2007)
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The primary goal of this project was to create a complete and detailed catalogue of
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and their effects on survival and/or reproduction of different human populations.
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Proceedings of the National Academy of Sciences of the United States of America
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http://archive.sciencewatch.com/newsletter/2012/201203/hottest_research_2012/
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It also aimed to provide evidence that can be used to explore the impact of
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Secondary goals included the support of better SNP and probe selection for
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low-coverage whole-genome sequencing of 179 individuals from 4 populations
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enabled further insight into genetic diversity. The understanding about
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was created to host and expand on the data set after the project's end.
2699: 2669: 2474: 1526:, Auton A, Brooks LD, Durbin RM, Gibbs RA, et al. (October 2010). 1173: 838: 757: 725: 669: 658: 449: 330: 2962: 1835: 1810: 1201: 319: 292: 2809: 480:) to be able to compare the results with those from other projects. 145: 2494: 2439: 2417: 2048: 1457: 1269: 1261: 1254: 765: 750: 701: 665: 641: 629: 296: 171: 1996: 1702:"An integrated map of structural variation in 2,504 human genomes" 1528:"A map of human genome variation from population-scale sequencing" 438: 2854: 2434: 2229: 1588:"An integrated map of genetic variation from 1,092 human genomes" 1358: 1343: 1322: 1080: 1065: 921: 885: 821: 810: 793: 782: 697: 552: 508: 492: 354: 116: 205:
were being uncovered and investigating human genomic variations
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exon-targeted sequencing of 697 individuals from 7 populations
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Sainsbury Wellcome Centre for Neural Circuits and Behaviour
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Over the course of the next three years, scientists at the
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high-coverage sequencing of 2 trios (mother-father-child)
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platforms in future studies and the improvement of the
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contributing to the sequence dataset and to a refined
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For the pilot studies human genome samples from the
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http://www.nih.gov/news/health/jan2008/nhgri-22.htm
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King (2012) The Hottest Research of 2011. 1514: 1512: 1431:The pilot phase consisted of three projects: 2117: 1811:"Genomics: In search of rare human variants" 1581: 1579: 1409:* Population that was collected in diaspora 2832: 2818: 2252: 2238: 2124:Oleksyk TK, Brukhin V, O'Brien SJ (2015). 1802: 1509: 419:, Shenzhen (BGI Shenzhen), China; and the 2183: 2168: 2151: 2141: 1959: 1902: 1892: 1834: 1733: 1676: 1619: 1576: 1559: 2780:Wellcome Trust Principal Research Fellow 448: 374:National Human Genome Research Institute 144: 2107: 2105: 2103: 2101: 2099: 2097: 2084: 2082: 2080: 2078: 2076: 2074: 1808: 444: 217:on population differences. Patterns of 3012: 2305:WTC for Gene Regulation and Expression 237: 2839: 2813: 2784:Wellcome Trust Senior Research Fellow 2233: 2191:http://1000gconference.sph.umich.edu/ 89:publication. In 2015, two papers in 2749:Institutional Strategic Support Fund 2094: 2071: 2028: 2019: 1976: 1919: 1412: 241: 208: 140:International Genome Sample Resource 18: 1860: 1851: 1421: 67:at the time. Scientists planned to 13: 2259: 14: 3056: 3025:Population genetics organizations 2199: 472:sequence, genome-wide genotypes, 2794: 2793: 2364: 2225:Human Genome Project Information 1487:Population groups in biomedicine 1456: 1374: 1342: 1314: 1285: 1253: 1225: 1193: 1156: 1128: 1096: 1064: 1032: 1000: 972: 941: 909: 869: 837: 809: 781: 749: 717: 685: 657: 628: 599: 246: 23: 3030:Single-nucleotide polymorphisms 2896:Single-nucleotide polymorphisms 2743:Collaborative Awards in Science 2455:Malawi Liverpool Wellcome Trust 555:(GIH); Chinese in metropolitan 413:Wellcome Trust Sanger Institute 188:single-nucleotide polymorphisms 2999:Human Genome Diversity Project 2746:Investigator Awards in Science 2352:Wellcome Research Laboratories 2317:WTC for Molecular Parasitology 2314:WTC for Mitochondrial Research 1788:Mount Sinai School of Medicine 1775: 1750: 1693: 1636: 1426: 1: 2958:Genome-wide association study 1502: 571:ancestry in the southwestern 326:patterns of variant alleles. 153: 2989:International HapMap Project 2300:WTC for Cell-Matrix Research 2212:International HapMap Project 1497:List of biological databases 439:1000 genomes project webpage 158:Since the completion of the 77:newly developed technologies 7: 2445:Genome Reference Consortium 2393:Cambridge Biomedical Campus 1449: 551:(PEL); Gujarati Indians in 10: 3061: 2326:WTC for Stem Cell Research 1809:Nielsen R (October 2010). 1492:1000 Plant Genomes Project 539:, Kenya (MKK); Toscani in 428:Fort Lauderdale principles 417:Beijing Genomics Institute 344: 2976: 2945: 2914: 2868: 2847: 2791: 2733: 2642: 2607: 2553:Executive leadership team 2552: 2503: 2373: 2362: 2339: 2331:Wellcome Sanger Institute 2274: 2267: 2143:10.1186/s13742-015-0095-0 1762:Nature News & Comment 415:in Hinxton, England; the 255:This section needs to be 32:This article needs to be 2295:Science Learning Centres 2037:Nature Reviews. Genetics 335:human reference sequence 316:minor allele frequencies 310:, which can be used for 308:human genetic variations 278: 2953:Whole genome sequencing 2886:Human genetic variation 2752:Science Strategic Award 2511:Eliza Manningham-Buller 2374:Projects and facilities 2282:Francis Crick Institute 1894:10.1073/pnas.1230533100 389:major geographic groups 384:databases at the time. 199:Human genetic variation 194:were being solidified. 174:(insertions/deletions ( 65:human genetic variation 2734:Awards and fellowships 2485:Wellcome Genome Campus 2413:COSMIC cancer database 2310:WTC for Human Genetics 2268:Centres and institutes 454: 324:linkage disequilibrium 180:copy number variations 150: 3020:Human genome projects 2922:Personalized medicine 2776:Wellcome Trust Centre 2773:Wellcome Image Awards 2398:Cancer Genome Project 567:(MXL); and people of 452: 232:Mendelian inheritance 224:phenotypic variations 172:structural variations 148: 2994:1000 Genomes Project 2984:Human Genome Project 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1874: 1870: 1863: 1854: 1846: 1842: 1837: 1832: 1828: 1824: 1820: 1816: 1812: 1805: 1790: 1789: 1784: 1778: 1763: 1759: 1753: 1745: 1741: 1736: 1731: 1727: 1723: 1719: 1715: 1711: 1707: 1703: 1696: 1688: 1684: 1679: 1674: 1670: 1666: 1662: 1658: 1654: 1650: 1646: 1639: 1631: 1627: 1622: 1617: 1613: 1609: 1605: 1601: 1597: 1593: 1589: 1582: 1580: 1571: 1567: 1562: 1557: 1553: 1549: 1545: 1541: 1537: 1533: 1529: 1525: 1521: 1515: 1513: 1508: 1498: 1495: 1493: 1490: 1488: 1485: 1483: 1480: 1478: 1475: 1473: 1470: 1469: 1465: 1459: 1454: 1447: 1440: 1437: 1434: 1433: 1432: 1419: 1410: 1403: 1400: 1397: 1393: 1389: 1385: 1382: 1377: 1372: 1369: 1368: 1365: 1362: 1360: 1356: 1352: 1349: 1345: 1340: 1337: 1336: 1333: 1330: 1328: 1324: 1321: 1317: 1312: 1309: 1308: 1305: 1302: 1300: 1296: 1293: 1288: 1283: 1280: 1279: 1276: 1273: 1271: 1267: 1263: 1260: 1256: 1251: 1248: 1247: 1244: 1241: 1239: 1235: 1232: 1228: 1223: 1220: 1219: 1216: 1213: 1211: 1207: 1203: 1200: 1196: 1191: 1188: 1187: 1184: 1181: 1179: 1178:United States 1175: 1171: 1167: 1164: 1159: 1154: 1151: 1150: 1147: 1144: 1142: 1138: 1135: 1131: 1126: 1123: 1122: 1119: 1116: 1114: 1110: 1106: 1103: 1099: 1094: 1091: 1090: 1087: 1084: 1082: 1078: 1074: 1071: 1067: 1062: 1059: 1058: 1055: 1052: 1050: 1046: 1042: 1039: 1035: 1030: 1027: 1026: 1023: 1020: 1018: 1014: 1011: 1008: 1003: 998: 995: 994: 991: 988: 986: 982: 979: 975: 970: 967: 966: 963: 960: 958: 954: 951: 948: 944: 939: 936: 935: 932: 929: 927: 923: 919: 916: 912: 907: 904: 903: 900: 897: 895: 894:United States 891: 887: 883: 880: 877: 872: 867: 864: 863: 860: 857: 855: 851: 847: 844: 840: 835: 832: 831: 828: 825: 823: 819: 816: 812: 807: 804: 803: 800: 797: 795: 791: 788: 784: 779: 776: 775: 772: 769: 767: 763: 759: 756: 752: 747: 744: 743: 740: 737: 735: 731: 730:Xishuangbanna 727: 724: 720: 715: 712: 711: 708: 705: 703: 699: 695: 692: 688: 683: 680: 679: 676: 673: 671: 667: 664: 660: 655: 652: 651: 648: 645: 643: 639: 636: 631: 626: 623: 622: 619: 616: 614: 610: 607: 602: 597: 594: 593: 589: 586: 583: 580: 579: 576: 574: 573:United States 570: 566: 562: 558: 554: 550: 546: 542: 538: 534: 530: 526: 522: 518: 514: 510: 506: 502: 498: 494: 490: 486: 481: 479: 475: 471: 467: 462: 460: 451: 442: 440: 436: 432: 429: 424: 422: 418: 414: 410: 406: 402: 397: 395: 390: 385: 383: 377: 375: 371: 367: 362: 360: 356: 352: 342: 340: 339:recombination 336: 332: 327: 325: 321: 317: 313: 309: 304: 302: 301:heart disease 298: 294: 290: 286: 270: 258: 253: 244: 243: 235: 233: 229: 225: 220: 216: 206: 204: 201:such as that 200: 195: 193: 189: 185: 184:retroelements 181: 177: 173: 169: 165: 161: 147: 143: 141: 136: 134: 130: 129:United States 126: 122: 118: 114: 110: 106: 102: 97: 94: 92: 88: 84: 83: 78: 74: 70: 66: 62: 58: 47: 35: 30: 21: 20: 2993: 2915:Applications 2798: 2763:Postdoctoral 2720:John Sulston 2715:David Stuart 2695:Anne Johnson 2633:Mark Walport 2597:James Thomas 2544:Fiona Powrie 2427: 2385: 2380: 2206:1000 Genomes 2185: 2175: 2170: 2133: 2129: 2119: 2040: 2036: 2030: 2021: 1991:(3): 340–5. 1988: 1984: 1978: 1935: 1931: 1921: 1876: 1872: 1862: 1853: 1818: 1814: 1804: 1793:. Retrieved 1791:. 2020-07-07 1786: 1777: 1766:. Retrieved 1764:. 2015-09-30 1761: 1752: 1709: 1705: 1695: 1652: 1648: 1638: 1595: 1591: 1535: 1531: 1446:generation. 1444: 1430: 1416: 1408: 1234:Puerto Rican 1141:Sierra Leone 563:ancestry in 482: 463: 456: 425: 398: 386: 378: 370:BGI Shenzhen 363: 351:human genome 348: 328: 305: 282: 264: 256: 212: 196: 190:(SNPs), and 157: 137: 98: 95: 90: 86: 80: 60: 56: 54: 44:October 2023 41: 33: 2710:David Steel 2705:Peter Rigby 2680:Roger Gibbs 2665:Harold Cook 2635:(2003–2013) 2629:(1998–2008) 2623:(1991–1998) 2617:(1965–1991) 2591:Kathy Poole 2588:Nick Moakes 2387:Big Picture 2130:GigaScience 1524:Altshuler D 1520:Abecasis GR 1427:Pilot phase 1398:collection 1238:Puerto Rico 1170:Los Angeles 950:Han Chinese 918:Han Chinese 726:Chinese Dai 587:Population 565:Los Angeles 3014:Categories 2765:Fellowship 2757:Fellowship 2700:Roy Porter 2685:Henry Dale 2670:Kay Davies 2600:Ed Whiting 2585:Tim Livett 2573:Alyson Fox 2564:Chris Bird 2525:Alan Brown 2475:UK Biobank 1795:2023-10-01 1768:2015-10-15 1503:References 1174:California 670:Bangladesh 331:genotyping 267:April 2021 154:Background 127:, and the 2963:SNP array 2594:Jim Smith 2013:205357396 758:Colombian 320:haplotype 293:cognition 3040:Genomics 2800:Category 2495:WormBase 2440:Farmcare 2418:DECIPHER 2215:Archived 2162:26568821 2065:13722452 2057:12560807 2005:18246066 1970:17122850 1913:12799463 1845:20981085 1744:26432246 1687:26432245 1630:23128226 1570:20981092 1450:See also 1388:Northern 1270:Pakistan 1202:Peruvian 1041:Japanese 879:Gujarati 854:Mandinka 766:Colombia 762:Medellín 702:Scotland 642:Barbados 497:Japanese 431:Archived 372:and the 297:diabetes 69:sequence 2855:Biobank 2435:Ensembl 2275:Current 2153:4644275 1961:2669898 1940:Bibcode 1881:Bibcode 1823:Bibcode 1735:4617611 1714:Bibcode 1678:4750478 1657:Bibcode 1621:3498066 1600:Bibcode 1561:3042601 1540:Bibcode 1359:Nigeria 1323:Toscani 1297:in the 1262:Punjabi 1081:Vietnam 1015:in the 981:Iberian 922:Beijing 886:Houston 882:Indians 846:Gambian 822:Finland 818:Finnish 794:Nigeria 698:England 694:British 666:Bengali 590:Detail 575:(ASW). 569:African 561:Mexican 553:Houston 537:Kinyawa 531:(LWK); 519:(CEU); 511:(CHB); 509:Beijing 505:Chinese 503:(JPT); 493:Nigeria 491:(YRI), 357:coding 355:protein 345:Outline 257:updated 182:(CNV), 117:Nigeria 73:genomes 34:updated 2460:MEROPS 2403:ChEMBL 2340:Former 2160:  2150:  2136:: 53. 2063:  2055:  2011:  2003:  1968:  1958:  1932:Nature 1911:  1904:164652 1901:  1843:  1815:Nature 1742:  1732:  1706:Nature 1685:  1675:  1649:Nature 1628:  1618:  1592:Nature 1568:  1558:  1532:Nature 1402:Detail 1364:Detail 1355:Ibadan 1351:Yoruba 1332:Detail 1327:Italia 1304:Detail 1275:Detail 1266:Lahore 1243:Detail 1215:Detail 1183:Detail 1146:Detail 1118:Detail 1109:Webuye 1086:Detail 1054:Detail 1022:Detail 1013:Telugu 1010:Indian 990:Detail 962:Detail 931:Detail 899:Detail 859:Detail 827:Detail 799:Detail 771:Detail 739:Detail 707:Detail 675:Detail 647:Detail 618:Detail 584:Place 557:Denver 533:Maasai 525:Webuye 517:Europe 489:Ibadan 485:Yoruba 474:fosmid 470:ENCODE 466:HapMap 401:Solexa 203:Indels 176:indels 123:, the 91:Nature 87:Nature 82:Nature 2429:eLife 2061:S2CID 2009:S2CID 1137:Mende 1113:Kenya 1105:Luhya 1049:Japan 1045:Tokyo 985:Spain 957:China 953:South 926:China 890:Texas 734:China 696:from 541:Italy 529:Kenya 521:Luhya 501:Tokyo 421:NHGRI 409:SOLiD 394:exons 359:genes 279:Goals 113:Kenya 109:Japan 105:Italy 101:China 2470:Rfam 2465:Pfam 2158:PMID 2053:PMID 2001:PMID 1966:PMID 1909:PMID 1841:PMID 1740:PMID 1683:PMID 1626:PMID 1566:PMID 1396:CEPH 1390:and 1384:Utah 1370:CEU 1338:YRI 1310:TSI 1299:U.K. 1281:STU 1249:PJL 1221:PUR 1210:Peru 1206:Lima 1189:PEL 1152:MXL 1124:MSL 1092:LWK 1073:Kinh 1060:KHV 1028:JPT 1017:U.K. 996:ITU 968:IBS 937:CHS 905:CHB 865:GIH 833:GWD 805:FIN 790:Esan 777:ESN 745:CLM 713:CDX 700:and 681:GBR 653:BEB 624:ACB 595:ASW 549:Peru 545:Lima 513:Utah 349:The 230:and 166:and 138:The 121:Peru 71:the 61:1KGP 55:The 2148:PMC 2138:doi 2045:doi 1993:doi 1956:PMC 1948:doi 1936:444 1899:PMC 1889:doi 1877:100 1831:doi 1819:467 1730:PMC 1722:doi 1710:526 1673:PMC 1665:doi 1653:526 1616:PMC 1608:doi 1596:491 1556:PMC 1548:doi 1536:467 1353:in 1325:in 1264:in 1236:in 1204:in 1168:in 1139:in 1107:in 1075:in 1043:in 920:in 884:in 848:in 820:in 792:in 760:in 728:in 668:in 640:in 611:in 581:ID 535:in 523:in 507:in 499:in 487:in 405:454 382:DNA 303:). 186:), 178:), 3016:: 2156:. 2146:. 2132:. 2128:. 2096:^ 2073:^ 2059:. 2051:. 2039:. 2007:. 1999:. 1989:40 1987:. 1964:. 1954:. 1946:. 1934:. 1930:. 1907:. 1897:. 1887:. 1875:. 1871:. 1839:. 1829:. 1817:. 1813:. 1785:. 1760:. 1738:. 1728:. 1720:. 1708:. 1704:. 1681:. 1671:. 1663:. 1651:. 1647:. 1624:. 1614:. 1606:. 1594:. 1590:. 1578:^ 1564:. 1554:. 1546:. 1534:. 1530:. 1522:, 1511:^ 1380:* 1357:, 1291:* 1268:, 1208:, 1176:, 1172:, 1162:* 1111:, 1079:, 1047:, 1006:* 955:, 924:, 892:, 888:, 875:* 852:– 764:, 732:, 634:* 605:* 547:, 527:, 495:; 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Index

human genetic variation
sequence
genomes
newly developed technologies
Nature
China
Italy
Japan
Kenya
Nigeria
Peru
United Kingdom
United States
human genome map
International Genome Sample Resource

Human Genome Project
population genetics
comparative genomics
structural variations
indels
copy number variations
retroelements
single-nucleotide polymorphisms
natural selection
Human genetic variation
Indels
Natural selection
DNA polymorphisms
phenotypic variations

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