Exome sequencing and the genetic basis of complex traits

被引：291

作者：

Kiezun, Adam ^{[1
,2
]}

Garimella, Kiran ^{[2
]}

Do, Ron ^{[2
,3
]}

Stitziel, Nathan O. ^{[2
,4
]}

Neale, Benjamin M. ^{[2
,3
,5
]}

McLaren, Paul J. ^{[1
,2
]}

Gupta, Namrata ^{[2
]}

Sklar, Pamela ^{[6
,7
]}

Sullivan, Patrick F. ^{[8
]}

Moran, Jennifer L. ^{[2
]}

Hultman, Christina M. ^{[9
]}

Lichtenstein, Paul ^{[9
]}

Magnusson, Patrik ^{[9
]}

Lehner, Thomas

Shugart, Yin Yao ^{[10
]}

Price, Alkes L. ^{[2
,11
,12
]}

de Bakker, Paul I. W. ^{[1
,2
,13
,14
]}

Purcell, Shaun M. ^{[5
]}

Sunyaev, Shamil R. ^{[1
,2
]}

机构：

[1] Harvard Univ, Sch Med, Dept Med, Div Genet,Brigham & Womens Hosp, Boston, MA 02114 USA

[2] Broad Inst MIT & Harvard, Cambridge, MA USA

[3] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[4] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Cardiovasc Med, Boston, MA 02115 USA

[5] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

[6] Mt Sinai Sch Med, Dept Psychiat, Friedman Brain Inst, New York, NY USA

[7] Mt Sinai Sch Med, Inst Genom & Multiscale Biol, New York, NY USA

[8] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA

[9] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[10] NIMH, Div Neurosci & Basic Behav Sci, Bethesda, MD 20892 USA

[11] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[12] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[13] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[14] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands

来源：

NATURE GENETICS | 2012年 / 44卷 / 06期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; ALLELE FREQUENCY-SPECTRUM; RARE VARIANTS; POPULATION-STRUCTURE; PROTEIN FUNCTION; COMMON DISEASES; PLASMA-LEVELS; MUTATIONS; SELECTION;

D O I：

10.1038/ng.2303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：623 / 630

页数：8

共 97 条

[71] Pooled Association Tests for Rare Variants in Exon-Resequencing Studies [J].

Price, Alkes L. ;

Kryukov, Gregory V. ;

de Bakker, Paul I. W. ;

Purcell, Shaun M. ;

Staples, Jeff ;

Wei, Lee-Jen ;

Sunyaev, Shamil R. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (06) :832-838

[72] Are rare variants responsible for susceptibility to complex diseases? [J].

Pritchard, JK .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :124-137

[73] The allelic architecture of human disease genes: common disease - common variant ... or not? [J].

Pritchard, JK ;

Cox, NJ .

HUMAN MOLECULAR GENETICS, 2002, 11 (20) :2417-2423

[74]

Pritchard JK, 2000, GENETICS, V155, P945

[75] Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits [J].

Purcell, S ;

Cherny, SS ;

Sham, PC .

BIOINFORMATICS, 2003, 19 (01) :149-150

[76] Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing [J].

Roach, Jared C. ;

Glusman, Gustavo ;

Smit, Arian F. A. ;

Huff, Chad D. ;

Hubley, Robert ;

Shannon, Paul T. ;

Rowen, Lee ;

Pant, Krishna P. ;

Goodman, Nathan ;

Bamshad, Michael ;

Shendure, Jay ;

Drmanac, Radoje ;

Jorde, Lynn B. ;

Hood, Leroy ;

Galas, David J. .

SCIENCE, 2010, 328 (5978) :636-639

[77] Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans [J].

Romeo, Stefano ;

Yin, Wu ;

Kozlitina, Julia ;

Pennacchio, Len A. ;

Boerwinkle, Eric ;

Hobbs, Helen H. ;

Cohen, Jonathan C. .

JOURNAL OF CLINICAL INVESTIGATION, 2009, 119 (01) :70-79

[78] Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels [J].

Saxena, Richa ;

Voight, Benjamin F. ;

Lyssenko, Valeriya ;

Burtt, Noel P. ;

de Bakker, Paul I. W. ;

Chen, Hong ;

Roix, Jeffrey J. ;

Kathiresan, Sekar ;

Hirschhorn, Joel N. ;

Daly, Mark J. ;

Hughes, Thomas E. ;

Groop, Leif ;

Altshuler, David ;

Almgren, Peter ;

Florez, Jose C. ;

Meyer, Joanne ;

Ardlie, Kristin ;

Bostroem, Kristina Bengtsson ;

Isomaa, Bo ;

Lettre, Guillaume ;

Lindblad, Ulf ;

Lyon, Helen N. ;

Melander, Olle ;

Newton-Cheh, Christopher ;

Nilsson, Peter ;

Orho-Melander, Marju ;

Rastam, Lennart ;

Speliotes, Elizabeth K. ;

Taskinen, Marja-Riitta ;

Tuomi, Tiinamaija ;

Guiducci, Candace ;

Berglund, Anna ;

Carlson, Joyce ;

Gianniny, Lauren ;

Hackett, Rachel ;

Hall, Liselotte ;

Holmkvist, Johan ;

Laurila, Esa ;

Sjoegren, Marketa ;

Sterner, Maria ;

Surti, Aarti ;

Svensson, Margareta ;

Svensson, Malin ;

Tewhey, Ryan ;

Blumenstiel, Brendan ;

Parkin, Melissa ;

DeFelice, Matthew ;

Barry, Rachel ;

Brodeur, Wendy ;

Camarata, Jody .

SCIENCE, 2007, 316 (5829) :1331-1336

[79] Next-generation DNA sequencing [J].

Shendure, Jay ;

Ji, Hanlee .

NATURE BIOTECHNOLOGY, 2008, 26 (10) :1135-1145

[80] A genome-wide association study identifies novel risk loci for type 2 diabetes [J].

Sladek, Robert ;

Rocheleau, Ghislain ;

Rung, Johan ;

Dina, Christian ;

Shen, Lishuang ;

Serre, David ;

Boutin, Philippe ;

Vincent, Daniel ;

Belisle, Alexandre ;

Hadjadj, Samy ;

Balkau, Beverley ;

Heude, Barbara ;

Charpentier, Guillaume ;

Hudson, Thomas J. ;

Montpetit, Alexandre ;

Pshezhetsky, Alexey V. ;

Prentki, Marc ;

Posner, Barry I. ;

Balding, David J. ;

Meyre, David ;

Polychronakos, Constantin ;

Froguel, Philippe .

NATURE, 2007, 445 (7130) :881-885

← 1 2 3 4 5 6 7 8 9 10 →