التفاصيل البيبلوغرافية
العنوان:
An integrated map of genetic variation from 1,092 human genomes
المؤلفون:
Altshuler, DM , Durbin, RM , Abecasis, GR , Bentley, DR , Chakravarti, A , Clark, AG , Donnelly, P , Eichler, EE , Flicek, P , Gabriel, SB , Gibbs, RA , Green, ED , Hurles, ME , Knoppers, BM , Korbel, JO , Lander, ES , Lee, C , Lehrach, H , Mardis, ER , Marth, GT , McVean, GA , Nickerson, DA , Schmidt, JP , Sherry, ST , Wang, J , Wilson, RK , Dinh, H , Kovar, C , Lee, S , Lewis, L , Muzny, D , Reid, J , Wang, M , Fang, X , Guo, X , Jian, M , Jiang, H , Jin, X , Li, G , Li, J , Li, Y , Li, Z , Liu, X , Lu, Y , Ma, X , Su, Z , Tai, S , Tang, M , Wang, B , Wang, G , Wu, H , Wu, R , Yin, Y , Zhang, W , Zhao, J , Zhao, M , Zheng, X , Zhou, Y , Gupta, N , Clarke, L , Leinonen, R , Smith, RE , Zheng-Bradley, X , Grocock, R , Humphray, S , James, T , Kingsbury, Z , Sudbrak, R , Albrecht, MW , Amstislavskiy, VS , Borodina, TA , Lienhard, M , Mertes, F , Sultan, M , Timmermann, B , Yaspo, M-L , Fulton, L , Fulton, R , Weinstock, GM , Balasubramaniam, S , Burton, J , Danecek, P , Keane, TM , Kolb-Kokocinski, A , McCarthy, S , Stalker, J , Quail, M , Davies, CJ , Gollub, J , Webster, T , Wong, B , Zhan, Y , Auton, A , Yu, F , Bainbridge, M , Challis, D , Evani, US , Lu, J , Nagaswamy, U , Sabo, A , Wang, Y , Yu, J , Coin, LJM , Fang, L , Li, Q , Lin, H , Liu, B , Luo, R , Qin, N , Shao, H , Xie, Y , Ye, C , Yu, C , Zhang, F , Zheng, H , Zhu, H , Garrison, EP , Kural, D , Lee, W-P , Leong, WF , Ward, AN , Wu, J , Zhang, M , Griffin, L , Hsieh, C-H , Mills, RE , Shi, X , Von Grotthuss, M , Zhang, C , Daly, MJ , DePristo, MA , Banks, E , Bhatia, G , Carneiro, MO , Del Angel, G , Genovese, G , Handsaker, RE , Hartl, C , McCarroll, SA , Nemesh, JC , Poplin, RE , Schaffner, SF , Shakir, K , Yoon, SC , Lihm, J , Makarov, V , Jin, H , Kim, W , Kim, KC , Rausch, T , Beal, K , Cunningham, F , Herrero, J , McLaren, WM , Ritchie, GRS , Gottipati, S , Keinan, A , Rodriguez-Flores, JL , Sabeti, PC , Grossman, SR , Tabrizi, S , Tariyal, R , Cooper, DN , Ball, EV , Stenson, PD , Barnes, B , Bauer, M , Cheetham, RK , Cox, T , Eberle, M , Kahn, S , Murray, L , Peden, J , Shaw, R , Ye, K , Batzer, MA , Konkel, MK , Walker, JA , MacArthur, DG , Lek, M , Herwig, R , Shriver, MD , Bustamante, CD , Byrnes, JK , De la Vega, FM , Gravel, S , Kenny, EE , Kidd, JM , Lacroute, P , Maples, BK , Moreno-Estrada, A , Zakharia, F , Halperin, E , Baran, Y , Craig, DW , Christoforides, A , Homer, N , Izatt, T , Kurdoglu, AA , Sinari, SA , Squire, K , Xiao, C , Sebat, J , Bafna, V , Burchard, EG , Hernandez, RD , Gignoux, CR , Haussler, D , Katzman, SJ , Kent, WJ , Howie, B , Ruiz-Linares, A , Dermitzakis, ET , Lappalainen, T , Devine, SE , Maroo, A , Tallon, LJ , Rosenfeld, JA , Michelson, LP , Kang, HM , Anderson, P , Angius, A , Bigham, A , Blackwell, T , Busonero, F , Cucca, F , Fuchsberger, C , Jones, C , Jun, G , Lyons, R , Maschio, A , Porcu, E , Reinier, F , Sanna, S , Schlessinger, D , Sidore, C , Tan, A , Trost, MK , Awadalla, P , Hodgkinson, A , Lunter, G , Marchini, JL , Myers, S , Churchhouse, C , Delaneau, O , Gupta-Hinch, A , Iqbal, Z , Mathieson, I , Rimmer, A , Xifara, DK , Oleksyk, TK , Fu, Y , Xiong, M , Jorde, L , Witherspoon, D , Xing, J , Browning, BL , Alkan, C , Hajirasouliha, I , Hormozdiari, F , Ko, A , Sudmant, PH , Chen, K , Chinwalla, A , Ding, L , Dooling, D , Koboldt, DC , McLellan, MD , Wallis, JW , Wendl, MC , Zhang, Q , Tyler-Smith, C , Albers, CA , Ayub, Q , Chen, Y , Coffey, AJ , Colonna, V , Huang, N , Jostins, L , Li, H , Scally, A , Walter, K , Xue, Y , Zhang, Y , Gerstein, MB , Abyzov, A , Balasubramanian, S , Chen, J , Clarke, D , Habegger, L , Harmanci, AO , Jin, M , Khurana, E , Mu, XJ , Sisu, C , Degenhardt, J , Stuetz, AM , Church, D , Michaelson, JJ , Ben, B , Lindsay, SJ , Ning, Z , Frankish, A , Harrow, J , Fowler, G , Hale, W , Kalra, D , Barker, J , Kelman, G , Kulesha, E , Radhakrishnan, R , Roa, A , Smirnov, D , Streeter, I , Toneva, I , Vaughan, B , Ananiev, V , Belaia, Z , Beloslyudtsev, D , Bouk, N , Chen, C , Cohen, R , Cook, C , Garner, J , Hefferon, T , Kimelman, M , Liu, C , Lopez, J , Meric, P , O'Sullivan, C , Ostapchuk, Y , Phan, L , Ponomarov, S , Schneider, V , Shekhtman, E , Sirotkin, K , Slotta, D , Zhang, H , Barnes, KC , Beiswanger, C , Cai, H , Cao, H , Gharani, N , Henn, B , Jones, D , Kaye, JS , Kent, A , Kerasidou, A , Mathias, R , Ossorio, PN , Parker, M , Reich, D , Rotimi, CN , Royal, CD , Sandoval, K , Su, Y , Tian, Z , Tishkoff, S , Toji, LH , Via, M , Yang, H , Yang, L , Zhu, J , Bodmer, W , Bedoya, G , Ming, CZ , Yang, G , You, CJ , Peltonen, L , Garcia-Montero, A , Orfao, A , Dutil, J , Martinez-Cruzado, JC , Brooks, LD , Felsenfeld, AL , McEwen, JE , Clemm, NC , Duncanson, A , Dunn, M , Guyer, MS , Peterson, JL
المساهمون:
1000 Genomes Project Consortium, Dermitzakis, Emmanouil, Universitat de Barcelona, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, Lander, Eric S.
المصدر:
Nature
سنة النشر:
2012
مصطلحات موضوعية:
Natural selection , LOCI , Genome-wide association study , Evolutionary biology , Continental Population Groups/genetics , Human genetic variation , VARIANTS , Genoma humà , Binding Sites/genetics , 0302 clinical medicine , RARE , Sequence Deletion/genetics , WIDE ASSOCIATION , ddc:576.5 , Copy-number variation , MUTATION , Exome sequencing , transcription factor , Conserved Sequence , Human evolution , Sequence Deletion , Genetics , RISK , 0303 health sciences , Multidisciplinary , Continental Population Groups , 1000 Genomes Project Consortium , Genetic analysis , Genomics , Polymorphism, Single Nucleotide/genetics , Research Highlight , 3. Good health , Algorithm , Multidisciplinary Sciences , Genetic Variation/genetics , Map , Science & Technology - Other Topics , Conserved Sequence/genetics , Integrated approach , General Science & Technology , Genetics, Medical , Haplotypes/genetics , Biology , Polymorphism, Single Nucleotide , Evolution, Molecular , 03 medical and health sciences , Genetic variation , Humans , Transcription Factors/metabolism , POPULATION-STRUCTURE , 1000 Genomes Project , Polymorphism , Nucleotide Motifs , Alleles , 030304 developmental biology , COPY NUMBER VARIATION , Science & Technology , Binding Sites , Human genome , Genome, Human , Racial Groups , Genetic Variation , Genetics, Population , Haplotypes , Genome, Human/genetics , untranslated RNA , 030217 neurology & neurosurgery , Transcription Factors , Genome-Wide Association Study
الوصف:
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here 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 methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 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 contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
وصف الملف:
application/pdf
اللغة:
English
تدمد:
0028-0836
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ca5122d8c3abb786fb2df1c7f65284Test https://serval.unil.ch/resource/serval:BIB_5BC1B19DB11D.P001/REF.pdfTest
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....82ca5122d8c3abb786fb2df1c7f65284
قاعدة البيانات:
OpenAIRE
