A map of human genome variation from population-scale sequencing

Nature

Volumn 467, Issue 7319, 2010, Pages 1061-1073

  Altshuler, David L ^b,c,d   Durbin, Richard M ^a   Abecasis, Gonçalo R ^e   Bentley, David R ^f   Chakravarti, Aravinda ^g   Clark, Andrew G ^h   Collins, Francis S ⁱ   De La Vega, Francisco M ^j   Donnelly, Peter ^k   Egholm, Michael ^l   Flicek, Paul ^m   Gabriel, Stacey B ^b   Gibbs, Richard A ⁿ   Knoppers, Bartha M ^o   Lander, Eric S ^b   Lehrach, Hans ^p   Mardis, Elaine R ^q   McVean, Gil A ^k,r   Nickerson, Debbie A ^s   Peltonen, Leena ^bn   Schafer, Alan J ^t   Sherry, Stephen T ^u   Wang, Jun ^v,w   Wilson, Richard K ^q   Deiros, David ⁿ   Metzker, Mike ⁿ   Muzny, Donna ⁿ   Reid, Jeff ⁿ   Wheeler, David ⁿ   Wang, Shenzhen Jun ^v,w   Li, Jingxiang ^v   Jian, Min ^v   Li, Guoqing ^v   Li, Ruiqiang ^v,w   Liang, Huiqing ^v   Tian, Geng ^v   Wang, Bo ^v   Wang, Jian ^v   Wang, Wei ^v   Yang, Huanming ^v   Zhang, Xiuqing ^v   Zheng, Huisong ^v   Ambrogio, Lauren ^b   Bloom, Toby ^b   Cibulskis, Kristian ^b   Fennell, Tim J ^b   Jaffe, David B ^b   Shefler, Erica ^b   Sougnez, Carrie L ^b   Bentley, Illumina David R ^f   Gormley, Niall ^f   Humphray, Sean ^f   Kingsbury, Zoya ^f   Koko Gonzales, Paula ^f   Stone, Jennifer ^f   Mc Kernan, Kevin J ^x   Costa, Gina L ^x   Ichikawa, Jeffry K ^x   Lee, Clarence C ^x   Sudbrak, Ralf ^p   Borodina, Tatiana A ^p   Dahl, Andreas ^y   Davydov, Alexey N ^p   Marquardt, Peter ^p   Mertes, Florian ^p   Nietfeld, Wilfiried ^p   Rosenstiel, Philip ^z   Schreiber, Stefan ^z   Soldatov, Aleksey V ^p   Timmermann, Bernd ^p   Tolzmann, Marius ^p   Affourtit, Jason ^aa   Ashworth, Dana ^aa   Attiya, Said ^aa   Bachorski, Melissa ^h   Buglione, Eli ^aa   Burke, Adam ^aa   Caprio, Amanda ^aa   Celone, Christopher ^aa   Clark, Shauna ^aa   Conners, David ^aa   Desany, Brian ^aa   Gu, Lisa ^aa   Guccione, Lorri ^aa   Kao, Kalvin ^aa   Kebbel, Andrew ^aa   Knowlton, Jennifer ^aa   Labrecque, Matthew ^aa   McDade, Louise ^aa   Mealmaker, Craig ^aa   Minderman, Melissa ^aa   Nawrocki, Anne ^aa   Niazi, Faheem ^aa   Pareja, Kristen ^aa   Ramenani, Ravi ^aa   Riches, David ^aa   Song, Wanmin ^aa   Turcotte, Cynthia ^aa   Wang, Shally ^aa   Dooling, David ^q   Fulton, Lucinda ^q   Fulton, Robert ^q   Weinstock, George ^q   Burton, John ^a   Carter, David M ^a   Churcher, Carol ^a   Coffey, Alison ^a   Cox, Anthony ^a   Palotie, Aarno ^a,ab   Quail, Michael ^a   Skelly, Tom ^a   Stalker, James ^a   Swerdlow, Harold P ^a   Turner, Daniel ^a   De Witte, Anniek ^ac   Giles, Shane ^ac   Bainbridge, Matthew ⁿ   Challis, Danny ⁿ   Sabo, Aniko ⁿ   Yu, Fuli ⁿ   Yu, Jin ⁿ   Fang, Xiaodong ^v   Guo, Xiaosen ^v   Li, Yingrui ^v   Luo, Ruibang ^v   Tai, Shuaishuai ^v   Wu, Honglong ^v   Zheng, Hancheng ^v   Zheng, Xiaole ^v   Zhou, Yan ^v   Marth, Gabor T ^ad   Garrison, Erik P ^ad   Huang, Weichun ^ae   Indap, Amit ^ad   Kural, Deniz ^ad   Lee, Wan Ping ^ad   Leong, Wen Fung ^ad   Quinlan, Aaron R ^af   Stewart, Chip ^ad   Stromberg, Michael P ^f   Ward, Alistair N ^ad   Wu, Jiantao ^ad   Lee, Charles ^ag   Mills, Ryan E ^ag   Shi, Xinghua ^ag   Daly, Mark J ^b   DePristo, Mark A ^b   Ball, Aaron D ^b   Banks, Eric ^b   Browning, Brian L ^s   Garimella, Kiran V ^b   Grossman, Sharon R ^b,ah   Handsaker, Robert E ^b   Hanna, Matt ^b   Hartl, Chris ^b   Kernytsky, Andrew M ^b   Korn, Joshua M ^b   Li, Heng ^b   Maguire, Jared R ^b   McKenna, Aaron ^b   Nemesh, James C ^b   Philippakis, Anthony A ^b   Poplin, Ryan E ^b   Price, Alkes ^ai   Rivas, Manuel A ^b   Sabeti, Pardis C ^b,ah   Schaffner, Stephen F ^b   Shlyakhter, Ilya A ^b,ah   Cooper, David N ^aj   Ball, Edward V ^aj   Mort, Matthew ^aj   Phillips, Andrew D ^aj   Stenson, Peter D ^aj   Sebat, Jonathan ^ak   Makarov, Vladimir ^al   Ye, Kenny ^am   Yoon, Seungtai C ^al   Bustamante, Carlos D ^an   Boyko, Adam ^an   Degenhardt, Jeremiah ^h   Gravel, Simon ^an   Gutenkunst, Ryan N ^ao   Kaganovich, Mark ^an   Keinan, Alon ^h   Lacroute, Phil ^an   Ma, Xin ^h   Reynolds, Andy ^h   Clarke, Laura ^m   Cunningham, Fiona ^m   Herrero, Javier ^m   Keenen, Stephen ^m   Kulesha, Eugene ^m   Leinonen, Rasko ^m   McLaren, William M ^m   Radhakrishnan, Rajesh ^m   Smith, Richard E ^m   Zalunin, Vadim ^m   Korbel, Jan O ^ap   Stütz, Adrian M ^ap   Humphray, Illumina Sean ^f   Bauer, Markus ^f   Cheetham, R Keira ^f   Cox, Tony ^f   Eberle, Michael ^f   James, Terena ^f   Kahn, Scott ^f   Murray, Lisa ^f   Ye, Kai ^aq   Fu, Yutao ^x   Hyland, Fiona C L ^j   Manning, Jonathan M ^x   Stephen F McLaughlin, ^x   Peckham, Heather E ^x   Sakarya, Onur ^j   Sun, Yongming A ^j   Tsung, Eric F ^x   Mark A Batzer, ^ar   Konkel, Miriam K ^ar   Walker, Jerilyn A ^ar   Albrecht, Marcus W ^p   Amstislavskiy, Vyacheslav S ^p   Herwig, Ralf ^p   Parkhomchuk, Dimitri V ^p   Agarwala, Richa ^u   Khouri, Hoda M ^u   Morgulis, Aleksandr O ^u   Paschall, Justin E ^u   Phan, Lon D ^u   Rotmistrovsky, Kirill E ^u   Sanders, Robert D ^u   Shumway, Martin F ^u   Xiao, Chunlin ^u   Gil A McVean, ^k,r   Auton, Adam ^k   Iqbal, Zamin ^k   Lunter, Gerton ^k   Marchini, Jonathan L ^k,r   Moutsianas, Loukas ^r   Myers, Simon ^k,r   Tumian, Afidalina ^r   Knight, James ^aa   Winer, Roger ^aa   Craig, David W ^as   Beckstrom Sternberg, Steve M ^as   Christoforides, Alexis ^as   Kurdoglu, Ahmet A ^as   Pearson, John V ^as   Sinari, Shripad A ^as   Tembe, Waibhav D ^as   Haussler, David ^at   Hinrichs, Angie S ^at   Katzman, Sol J ^at   Kern, Andrew ^at   Kuhn, Robert M ^at   Przeworski, Molly ^au   Hernandez, Ryan D ^av   Howie, Bryan ^au   Kelley, Joanna L ^au   Melton, S Cord ^au   Li, Yun ^e   Anderson, Paul ^e   Blackwell, Tom ^e   Chen, Wei ^e   Cookson, William O ^aw   Ding, Jun ^e   Kang, Hyun Min ^e   Lathrop, Mark ^ax   Liang, Liming ^ai   Moffatt, Miriam F ^aw   Scheet, Paul ^ay   Sidore, Carlo ^e   Snyder, Matthew ^e   Zhan, Xiaowei ^e   Zöllner, Sebastian ^e   Awadalla, Philip ^az   Casals, Ferran ^az   Idaghdour, Youssef ^az   Keebler, John ^az   Stone, Eric A ^az   Zilversmit, Martine ^az   Jorde, Lynn ^ba   Xing, Jinchuan ^ba   Eichler, Evan E ^s   Aksay, Gozde ^s   Alkan, Can ^s   Hajirasouliha, Iman ^bb   Hormozdiari, Fereydoun ^bb   Kidd, Jeffrey M ^s,an   CenkSahinalp, S ^bb   Sudmant, Peter H ^s   Chen, Ken ^q   Chinwalla, Asif ^q   Ding, Li ^q   Koboldt, Daniel C ^q   McLellan, Mike D ^q   Wallis, John W ^q   Wendl, Michael C ^q   Zhang, Qunyuan ^q   Albers, Cornelis A ^bc   Ayub, Qasim ^a   Balasubramaniam, Senduran ^a   Barrett, Jeffrey C ^a   Chen, Yuan ^a   Conrad, Donald F ^a   Danecek, Petr ^a   Dermitzakis, Emmanouil T ^bd   Hu, Min ^a   Huang, Ni ^a   Matt E Hurles, ^a   Jin, Hanjun ^be   Jostins, Luke ^a   Keane, Thomas M ^a   Quang Le, Si ^a   Lindsay, Sarah ^a   Long, Quan ^a   MacArthur, Daniel G ^a   Montgomery, Stephen B ^bd   Parts, Leopold ^a   Chris Tyler Smith, ^a   Walter, Klaudia ^a   Zhang, Yujun ^a   Gerstein, Mark B ^bf,bg   Snyder, Michael ^an   Abyzov, Alexej ^bf   Balasubramanian, Suganthi ^bf   Bjornson, Robert ^bg   Grubert, Fabian ^an   Habegger, Lukas ^bf   Haraksingh, Rajini ^bf   Khurana, Ekta ^bf   Lam, Hugo Y K ^an   Leng, Jing ^bf   Mu, Xinmeng Jasmine ^bf   Urban, Alexander E ^an   Zhang, Zhengdong ^bf   McCarroll, Steven A ^b,d   Zheng Bradley, Xiangqun ^m   Batzer, Mark A ^ar   Hurles, Matt E ^a   Du, Jiang ^bg   Jee, Justin ^bf   Coafra, Cristian ⁿ   Dinh, Huyen ⁿ   Kovar, Christie ⁿ   Lee, Sandy ⁿ   Nazareth, Lynne ⁿ   Wilkinson, Jane ^b   Coffey, Allison ^a   Scott, Carol ^a   Tyler Smith, Chris ^a   Gharani, Neda ^bh   Kaye, Jane S ^r   Kent, Alastair ^bi   Li, Taosha ^v   McGuire, Amy L ⁿ   Ossorio, Pilar N ^bj   Rotimi, Charles N ^u   Su, Yeyang ^v   Toji, Lorraine H ^bh   Felsenfeld, Adam L ^bk   McEwen, Jean E ^bk   Abdallah, Assya ^bl   Juenger, Christopher R ^bm   Clemm, Nicholas C ^bk   Duncanson, Audrey ^t   Green, Eric D ^bk   Guyer, Mark S ^bk   Peterson, Jane L ^bk   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

^f ILLUMINA INC   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Department of Obstetrics Gynecology   (United States)

ⁱ US National Institutes of Health   (United States)

^j Life Technologies Corporation   (United States)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l PALL CORPORATION   (United States)

^m EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

ⁿ BAYLOR COLLEGE OF MEDICINE   (United States)

^o MCGILL UNIVERSITY   (Canada)

^p MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^q WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^r UNIVERSITY OF OXFORD   (United Kingdom)

^s UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^t WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^u NATIONAL INSTITUTES OF HEALTH   (United States)

^v BGI SHENZHEN   (China)

^w UNIVERSITY OF COPENHAGEN   (Denmark)

^x Life Technologies   (United States)

^y DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^z UNIVERSITY OF KIEL   (Germany)

^aa Roche Applied Science   (United States)

^ab UNIVERSITY OF HELSINKI   (Finland)

^ac AGILENT TECHNOLOGIES   (United States)

^ad BOSTON COLLEGE   (United States)

^ae NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^af UNIVERSITY OF VIRGINIA   (United States)

^ag BRIGHAM AND WOMEN S HOSPITAL   (United States)

^ah HARVARD UNIVERSITY   (United States)

^ai HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^aj CARDIFF UNIVERSITY   (United Kingdom)

^ak UNIVERSITY OF CALIFORNIA   (United States)

^al MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^am ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^an STANFORD UNIVERSITY   (United States)

^ao University of Arizona   (United States)

^ap EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^aq LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^ar LOUISIANA STATE UNIVERSITY   (United States)

^as TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^at University of California Santa Cruz   (United States)

^au UNIVERSITY OF CHICAGO   (United States)

^av UNIVERSITY OF CALIFORNIA   (United States)

^aw NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^ax CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^ay UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^az UNIVERSITÉ DE MONTRÉAL   (Canada)

^ba UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^bb SIMON FRASER UNIVERSITY   (Canada)

^bc UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^bd UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^be Korea National Institute of Health   (South Korea)

^bf YALE UNIVERSITY   (United States)

^bg Yale University   (United States)

^bh Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

^bi GENETIC ALLIANCE UK   (United Kingdom)

^bj UNIVERSITY OF WISCONSIN MADISON   (United States)

^bk NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^bl GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^bm CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^bn US Food and Drug Administration ^*

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; DATA SET; FREQUENCY ANALYSIS; GENETIC VARIATION; GENOME; GENOTYPE; HERITABILITY; MUTATION; NATURAL SELECTION; PHENOTYPE; POLYMORPHISM; POPULATION STRUCTURE; RESEARCH WORK;

ARTICLE; EXON; FATHER; GENE; GENE FREQUENCY; GENE MAPPING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MICRONUCLEUS; HAPLOTYPE; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN GENOME; INDEL MUTATION; MOTHER; NATURAL SELECTION; PILOT STUDY; POPULATION DENSITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTITUTION LINE;

EID: 84975742565     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature09534     Document Type: Article

References (49)

1. The International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431, 931-945 (2004).
2. Sachidanandam, R. et al.Amap of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928-933 (2001).
3. The International Hap Map Consortium. A haplo type map of the human genome. Nature 437, 1299-1320 (2005).
4. The International Hap Map Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861 (2007).
5. Hindorff, L. A., Junkins, H. A., Hall, P. N., Mehta, J. P. & Manolio, T. A. A catalog of published genome-wide association studies. Æhttp://www.genome.gov/gwastudiesæ (2010).
6. Craddock, N. et al. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 464, 713-720 (2010).
7. Manolio, T. A. et al. Finding the missing heritability of complex diseases. Nature 461, 747-753 (2009).
8. Nejentsev, S., Walker, N., Riches, D., Egholm, M.&Todd, J.A.Rare variantsofIFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387-389 (2009).
9. Cohen, J. C., Boerwinkle, E., Mosley, T. H. Jr & Hobbs, H. H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354, 1264-1272 (2006).
10. Levy, S. et al. The diploid genome sequence of an individual human. PLoS Biol. 5, e254 (2007).
11. Wheeler, D. A. et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-876 (2008).
12. Bentley, D. R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
13. Wang, J. et al. The diploid genome sequence of an Asian individual. Nature 456, 60-65 (2008).
14. Li, H. et al. The sequence alignment/map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
15. Albers, C. et al. Dindel: Accurate indel calls from short read data. Genome Res. (in the press).
16. Lam, H. Y. et al. Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nature Biotechnol. 28, 47-55 (2010).
17. The International Hap Map 3 Consortium. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010).
18. Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704-712 (2010).
19. Irwin, J. A. et al. Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples. J. Mol. Evol. 68, 516-527 (2009).
20. Balaresque, P. et al. A predominantly neolithic origin for European paternal lineages. PLoS Biol. 8, e1000285 (2010).
21. Wendl, M. C. & Wilson, R. K. The theory of discovering rare variants via DNA sequencing. BMC Genomics 10, 485 (2009).
22. Le, S. Q., Li, H. & Durbin, R. QCALL: SNP detection and genotyping from low coverage sequence data on multiple diploid samples. Genome Res. (in the press).
23. NHLBI Program for Genomic Applications. SeattleSNPs. Æhttp://pga. gs.washington.edu/æ (2010).
24. Xing, J. et al. Mobile elements create structural variation: analysis of a complete human genome. Genome Res. 19, 1516-1526 (2009).
25. Stranger, B.E. et al.Population genomicsofhumangeneexpression. Nature Genet. 39, 1217-1224 (2007).
26. Li, Y., Willer, C. J., Ding, J., Scheet, P. & Abecasis, G. R. MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epi. (in the press).
27. Marchini, J. & Howie, B. Genotype imputation for genome-wide association studies. Nature Rev. Genet. 11, 499-511 (2010).
28. Dixon, A. L. et al. A genome-wide association study of global gene expression. Nature Genet. 39, 1202-1207 (2007).
29. Nachman, M. W. & Crowell, S. L. Estimate of the mutation rate per nucleotide in humans. Genetics 156, 297-304 (2000).
30. Kondrashov, A. S. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum. Mutat. 21, 12-27 (2003).
31. Roach, J. C. et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636-639 (2010).
32. Charlesworth, B., Morgan, M. T. & Charlesworth, D. The effect of deleterious mutations on neutral molecular variation. Genetics 134, 1289-1303 (1993).
33. Maynard Smith, J. & Haigh, J. The hitch-hiking effect of a favourable gene. Genet. Res. 23, 23-35 (1974).
34. Cai, J. J., Macpherson, J. M., Sella, G. & Petrov, D. A. Pervasive hitchhiking at coding and regulatory sites in humans. PLoS Genet. 5, e1000336 (2009).
35. Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in the human genome. PLoS Biol. 4, e72 (2006).
36. Barreiro, L. B., Laval, G., Quach, H., Patin, E. & Quintana-Murci, L. Natural selection has driven population differentiation in modern humans. Nature Genet. 40, 340-345 (2008).
37. Lamason, R. L. et al. SLC24A5, aputative cation exchanger, affects pigmentation in zebrafish and humans. Science 310, 1782-1786 (2005).
38. Tournamille, C., Colin, Y., Cartron, J. P. & Le Van Kim, C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expressioninDuffy-negative individuals. Nature Genet. 10, 224-228 (1995).
39. Myers, S. et al. Drive againsthotspotmotifsinprimatesimplicatesthePRDM9gene in meiotic recombination. Science 327, 876-879 (2010).
40. Myers, S., Freeman, C., Auton, A., Donnelly, P. & McVean, G. A common sequence motif associated with recombination hot spots and genome instabilityinhumans. Nature Genet. 40, 1124-1129 (2008).
41. Baudat, F. et al. PRDM9isa major determinantofmeiotic recombination hotspots in humans and mice. Science 327, 836-840 (2010).
42. Parvanov, E.D., Petkov, P.M.&Paigen, K.Prdm9 control sactivation of mammalian recombination hotspots. Science 327, 835 (2010).
43. Liu, J. Z. et al. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nature Genet. 42, 436-440 (2010).
44. Sanna, S. et al. Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nature Genet. 42, 495-497 (2010).
45. Musunuru, K. et al. Exome sequencing, mutations in ANGPTL3, and familial combined hypolipidemia. N. Engl. J. Med. (in the press).
46. Ewing, A. D. & Kazazian, H. H. Jr. High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Res. 20, 1262-1270 (2010).
47. Mills, R. E. et al. An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res. 16, 1182-1190 (2006).
48. Liti, G. et al. Population genomics of domestic and wild yeasts. Nature 458, 337-341 (2009).
49. Li, Y., Willer, C., Sanna, S. & Abecasis, G. Genotype imputation. Annu. Rev. Genomics Hum. Genet. 10, 387-406 (2009).