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dc.contributor.authorDurbin, RM-
dc.contributor.authorAbecasis, GR-
dc.contributor.authorBentley, DR-
dc.contributor.authorChakravarti, A-
dc.contributor.authorClark, AG-
dc.contributor.authorDonnelly, P-
dc.contributor.authorEichler, EE-
dc.contributor.authorFlicek, P-
dc.contributor.authorGabriel, SB-
dc.contributor.authorGibbs, RA-
dc.contributor.authorSchmidt, JP-
dc.contributor.authorDavies, CJ-
dc.contributor.authorGollub, J-
dc.contributor.authorWebster, T-
dc.contributor.authorWong, B-
dc.contributor.authorZhan, Y-
dc.contributor.authorAuton, A-
dc.contributor.authorGibbs, RA-
dc.contributor.authorYu, F-
dc.contributor.authorBainbridge, M-
dc.contributor.authorGreen, ED-
dc.contributor.authorChallis, D-
dc.contributor.authorEvani, US-
dc.contributor.authorLu, J-
dc.contributor.authorMuzny, D-
dc.contributor.authorNagaswamy, U-
dc.contributor.authorReid, J-
dc.contributor.authorSabo, A-
dc.contributor.authorWang, Y-
dc.contributor.authorYu, J-
dc.contributor.authorWang, J-
dc.contributor.authorHurles, ME-
dc.contributor.authorCoin, LJM-
dc.contributor.authorFang, L-
dc.contributor.authorGuo, X-
dc.contributor.authorJin, X-
dc.contributor.authorLi, G-
dc.contributor.authorLi, Q-
dc.contributor.authorLi, Y-
dc.contributor.authorLi, Z-
dc.contributor.authorLin, H-
dc.contributor.authorLiu, B-
dc.contributor.authorKnoppers, BM-
dc.contributor.authorLuo, R-
dc.contributor.authorQin, N-
dc.contributor.authorShao, H-
dc.contributor.authorWang, B-
dc.contributor.authorXie, Y-
dc.contributor.authorYe, C-
dc.contributor.authorYu, C-
dc.contributor.authorZhang, F-
dc.contributor.authorZheng, H-
dc.contributor.authorZhu, H-
dc.contributor.authorKorbel, JO-
dc.contributor.authorMarth, GT-
dc.contributor.authorGarrison, EP-
dc.contributor.authorKural, D-
dc.contributor.authorLee, W-P-
dc.contributor.authorLeong, WF-
dc.contributor.authorWard, AN-
dc.contributor.authorWu, J-
dc.contributor.authorZhang, M-
dc.contributor.authorLee, C-
dc.contributor.authorGriffin, L-
dc.contributor.authorLander, ES-
dc.contributor.authorHsieh, C-H-
dc.contributor.authorMills, RE-
dc.contributor.authorShi, X-
dc.contributor.authorvon Grotthuss, M-
dc.contributor.authorZhang, C-
dc.contributor.authorDaly, MJ-
dc.contributor.authorDePristo, MA-
dc.contributor.authorAltshuler, DM-
dc.contributor.authorBanks, E-
dc.contributor.authorBhatia, G-
dc.contributor.authorLee, C-
dc.contributor.authorCarneiro, MO-
dc.contributor.authordel Angel, G-
dc.contributor.authorGabriel, SB-
dc.contributor.authorGenovese, G-
dc.contributor.authorGupta, N-
dc.contributor.authorHandsaker, RE-
dc.contributor.authorHartl, C-
dc.contributor.authorLander, ES-
dc.contributor.authorMcCarroll, SA-
dc.contributor.authorNemesh, JC-
dc.contributor.authorLehrach, H-
dc.contributor.authorPoplin, RE-
dc.contributor.authorSchaffner, SF-
dc.contributor.authorShakir, K-
dc.contributor.authorYoon, SC-
dc.contributor.authorLihm, J-
dc.contributor.authorMakarov, V-
dc.contributor.authorJin, H-
dc.contributor.authorKim, W-
dc.contributor.authorKim, KC-
dc.contributor.authorKorbel, JO-
dc.contributor.authorMardis, ER-
dc.contributor.authorRausch, T-
dc.contributor.authorFlicek, P-
dc.contributor.authorBeal, K-
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dc.contributor.authorCunningham, F-
dc.contributor.authorHerrero, J-
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dc.contributor.authorRitchie, GRS-
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dc.contributor.authorMarth, GT-
dc.contributor.authorClark, AG-
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dc.contributor.authorRodriguez-Flores, JL-
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dc.contributor.authorEberle, M-
dc.contributor.authorHumphray, S-
dc.contributor.authorKahn, S-
dc.contributor.authorMurray, L-
dc.contributor.authorNickerson, DA-
dc.contributor.authorPeden, J-
dc.contributor.authorShaw, R-
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dc.contributor.authorBatzer, MA-
dc.contributor.authorKonkel, MK-
dc.contributor.authorWalker, JA-
dc.contributor.authorMacArthur, DG-
dc.contributor.authorLek, M-
dc.contributor.authorSudbrak, R-
dc.contributor.authorAmstislavskiy, VS-
dc.contributor.authorSchmidt, JP-
dc.contributor.authorHerwig, R-
dc.contributor.authorShriver, MD-
dc.contributor.authorBustamante, CD-
dc.contributor.authorByrnes, JK-
dc.contributor.authorDe la Vega, FM-
dc.contributor.authorGravel, S-
dc.contributor.authorKenny, EE-
dc.contributor.authorKidd, JM-
dc.contributor.authorLacroute, P-
dc.contributor.authorMaples, BK-
dc.contributor.authorSherry, ST-
dc.contributor.authorMoreno-Estrada, A-
dc.contributor.authorZakharia, F-
dc.contributor.authorHalperin, E-
dc.contributor.authorBaran, Y-
dc.contributor.authorCraig, DW-
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dc.contributor.authorHomer, N-
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dc.contributor.authorKurdoglu, AA-
dc.contributor.authorSinari, SA-
dc.contributor.authorWang, J-
dc.contributor.authorSquire, K-
dc.contributor.authorSherry, ST-
dc.contributor.authorXiao, C-
dc.contributor.authorSebat, J-
dc.contributor.authorBafna, V-
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dc.contributor.authorBurchard, EG-
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dc.contributor.authorLiu, X-
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dc.contributor.authorTallon, LJ-
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dc.contributor.authorLi, Y-
dc.contributor.authorLyons, R-
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dc.contributor.authorPorcu, E-
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dc.contributor.authorSanna, S-
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dc.contributor.authorKovar, C-
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dc.contributor.authorTan, A-
dc.contributor.authorTrost, MK-
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dc.contributor.authorIqbal, Z-
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dc.contributor.authorRimmer, A-
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dc.contributor.authorOleksyk, TK-
dc.contributor.authorFu, Y-
dc.contributor.authorLiu, X-
dc.contributor.authorXiong, M-
dc.contributor.authorLewis, L-
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dc.contributor.authorKo, A-
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dc.contributor.authorMcCarthy, S-
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dc.contributor.authorZhang, Y-
dc.contributor.authorWang, J-
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dc.contributor.authorvon Grotthuss, M-
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dc.contributor.authorZhang, M-
dc.contributor.authorMcCarroll, SA-
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dc.contributor.authorGerstein, MB-
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dc.contributor.authorChen, J-
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dc.contributor.authorGuo, X-
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dc.contributor.authorMa, X-
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dc.contributor.authorMarth, GT-
dc.contributor.authorGarrison, EP-
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dc.contributor.authorKoboldt, DC-
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dc.contributor.authordel Angel, G-
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dc.contributor.authorTyler-Smith, C-
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dc.contributor.authorYin, Y-
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dc.contributor.authorGerstein, MB-
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dc.contributor.authorClarke, D-
dc.contributor.authorFu, Y-
dc.contributor.authorZhang, W-
dc.contributor.authorHarmanci, AO-
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dc.contributor.authorMu, XJ-
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dc.contributor.authorMuzny, D-
dc.contributor.authorReid, J-
dc.contributor.authorWang, J-
dc.contributor.authorGuo, X-
dc.contributor.authorLi, G-
dc.contributor.authorLi, Y-
dc.contributor.authorZheng, X-
dc.contributor.authorAltshuler, DM-
dc.contributor.authorFlicek, P-
dc.contributor.authorClarke, L-
dc.contributor.authorZhao, M-
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dc.contributor.authorKulesha, E-
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dc.contributor.authorSmirnov, D-
dc.contributor.authorSmith, RE-
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dc.contributor.authorKahn, S-
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dc.contributor.authorZhou, Y-
dc.contributor.authorCraig, DW-
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dc.contributor.authorKurdoglu, AA-
dc.contributor.authorSherry, ST-
dc.contributor.authorAnaniev, V-
dc.contributor.authorBelaia, Z-
dc.contributor.authorBeloslyudtsev, D-
dc.contributor.authorBouk, N-
dc.contributor.authorChen, C-
dc.contributor.authorChurch, D-
dc.contributor.authorLander, ES-
dc.contributor.authorCohen, R-
dc.contributor.authorCook, C-
dc.contributor.authorGarner, J-
dc.contributor.authorHefferon, T-
dc.contributor.authorKimelman, M-
dc.contributor.authorLiu, C-
dc.contributor.authorLopez, J-
dc.contributor.authorMeric, P-
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dc.contributor.authorOstapchuk, Y-
dc.contributor.authorAltshuler, DM-
dc.contributor.authorPhan, L-
dc.contributor.authorPonomarov, S-
dc.contributor.authorSchneider, V-
dc.contributor.authorShekhtman, E-
dc.contributor.authorSirotkin, K-
dc.contributor.authorSlotta, D-
dc.contributor.authorXiao, C-
dc.contributor.authorZhang, H-
dc.contributor.authorHaussler, D-
dc.contributor.authorAbecasis, GR-
dc.contributor.authorGabriel, SB-
dc.contributor.authorMcVean, GA-
dc.contributor.authorAlkan, C-
dc.contributor.authorKo, A-
dc.contributor.authorDooling, D-
dc.contributor.authorDurbin, RM-
dc.contributor.authorBalasubramaniam, S-
dc.contributor.authorKeane, TM-
dc.contributor.authorMcCarthy, S-
dc.contributor.authorStalker, J-
dc.contributor.authorChakravarti, A-
dc.contributor.authorGupta, N-
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dc.contributor.authorBarnes, KC-
dc.contributor.authorBeiswanger, C-
dc.contributor.authorBurchard, EG-
dc.contributor.authorBustamante, CD-
dc.contributor.authorCai, H-
dc.contributor.authorCao, H-
dc.contributor.authorDurbin, RM-
dc.contributor.authorGharani, N-
dc.contributor.authorFlicek, P-
dc.contributor.authorGibbs, RA-
dc.contributor.authorGignoux, CR-
dc.contributor.authorGravel, S-
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dc.contributor.authorJorde, L-
dc.contributor.authorKaye, JS-
dc.contributor.authorKeinan, A-
dc.contributor.authorKent, A-
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dc.contributor.authorGuyer, MS-
dc.contributor.authorPeterson, JL-
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dc.contributor.authorBrooks, LD-
dc.contributor.authorDePristo, MA-
dc.contributor.authorDurbin, RM-
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dc.contributor.authorKang, HM-
dc.contributor.authorGrocock, R-
dc.contributor.authorMarth, GT-
dc.contributor.authorMcVean, GA-
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dc.contributor.authorDurbin, RM-
dc.contributor.authorBalasubramaniam, S-
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dc.date.accessioned2017-07-13T13:34:37Z-
dc.date.available2012-11-01-
dc.date.available2017-07-13T13:34:37Z-
dc.date.issued2012-
dc.identifier.citationNATURE, 2012, 491 (7422), pp. 56 - 65 (10)en_US
dc.identifier.issnhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000310434500030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5-
dc.identifier.issnhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000310434500030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5-
dc.identifier.issn0028-0836-
dc.identifier.urihttp://bura.brunel.ac.uk/handle/2438/14917-
dc.description.abstractThrough characterising the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help understand the genetic contribution to disease. We describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methodologies to integrate information across multiple algorithms and diverse data sources we provide a validated haplotype map of 38 million SNPs, 1.4 million indels and over 14 thousand larger deletions. We show that individuals from different populations carry different profiles of rare and common variants and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways and that each individual harbours hundreds of rare non-coding variants at conserved sites, such as transcription-factor-motif disrupting changes. This resource, which captures up to 98% of accessible SNPs at a frequency of 1% in populations of medical genetics focus, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.en_US
dc.format.extent56 - 65 (10)-
dc.languageEnglish-
dc.language.isoenen_US
dc.publisherNATURE PUBLISHING GROUPen_US
dc.subjectScience & Technologyen_US
dc.subjectMultidisciplinary Sciencesen_US
dc.subjectScience & Technology - Other Topicsen_US
dc.subjectMULTIDISCIPLINARY SCIENCESen_US
dc.subjectCOPY NUMBER VARIATIONen_US
dc.subjectPOPULATION-SCALEen_US
dc.subjectWIDE ASSOCIATIONen_US
dc.subjectCODING VARIATIONen_US
dc.subjectRAREen_US
dc.subjectVARIANTSen_US
dc.subjectDISEASEen_US
dc.subjectLOCIen_US
dc.subjectDISCOVERYen_US
dc.subjectHISTORYen_US
dc.titleAn integrated map of genetic variation from 1,092 human genomesen_US
dc.typeArticleen_US
dc.identifier.doihttp://dx.doi.org/10.1038/nature11632-
dc.relation.isPartOfNATURE-
pubs.issue7422-
pubs.publication-statusPublished-
pubs.volume491-
Appears in Collections:Dept of Health Sciences Research Papers

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