An evaluation of statistical approaches to rare variant analysis in genetic association studies.
An evaluation of statistical approaches to rare variant analysis in genetic association studies.
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DOI：
10.1002/gepi.20450
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发表时间：
2010-02
影响因子：
2.1
通讯作者：
Zeggini, Eleftheria
中科院分区：
文献类型：
--
作者：
Morris, Andrew P.;Zeggini, Eleftheria
全基因组关联（GWA）研究已被证明是非常成功的，在确定新的共同多态性的影响，遗传成分的复杂性状。然而，迄今尚未发现的复杂性状的遗传决定因素的一个来源是那些通过罕见变异的影响介导的。随着越来越多的大规模重新测序数据的稀有变异发现的可用性，我们已经开发了一种新的统计方法，用于检测复杂的性状与这些基因座的关联，在同一功能单元内的次要等位基因的积累搜索的基础上。我们已经进行了模拟，以评估策略，以确定罕见的变异协会在人口为基础的遗传学研究时，数据可从重新测序发现的努力，或从市售的GWA芯片。我们的研究结果表明，通过重新测序发现的罕见变异的积累为基础的方法提供了比传统的GWA数据分析更大的力量，从而为未来发现复杂性状的遗传决定因素提供了一个令人兴奋的机会。Genet.流行病学34：188-193，2010.© 2009 Wiley-Liss公司。
Genome-wide association (GWA) studies have proved to be extremely successful in identifying novel common polymorphisms contributing effects to the genetic component underlying complex traits. Nevertheless, one source of, as yet, undiscovered genetic determinants of complex traits are those mediated through the effects of rare variants. With the increasing availability of large-scale re-sequencing data for rare variant discovery, we have developed a novel statistical method for the detection of complex trait associations with these loci, based on searching for accumulations of minor alleles within the same functional unit. We have undertaken simulations to evaluate strategies for the identification of rare variant associations in population-based genetic studies when data are available from re-sequencing discovery efforts or from commercially available GWA chips. Our results demonstrate that methods based on accumulations of rare variants discovered through re-sequencing offer substantially greater power than conventional analysis of GWA data, and thus provide an exciting opportunity for future discovery of genetic determinants of complex traits. Genet. Epidemiol. 34: 188–193, 2010. © 2009 Wiley-Liss, Inc.
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影响因子：
30.8
作者：
Zeggini, Eleftheria;Scott, Laura J.;Saxena, Richa;Voight, Benjamin F.;Marchini, Jonathan L.;Hu, Tianle;de Bakker, Paul I. W.;Abecasis, Goncalo R.;Almgren, Peter;Andersen, Gitte;Ardlie, Kristin;Bostroem, Kristina Bengtsson;Bergman, Richard N.;Bonnycastle, Lori L.;Borch-Johnsen, Knut;Burtt, Noel P.;Chen, Hong;Chines, Peter S.;Daly, Mark J.;Deodhar, Parimal;Ding, Chia-Jen;Doney, Alex S. F.;Duren, William L.;Elliott, Katherine S.;Erdos, Michael R.;Frayling, Timothy M.;Freathy, Rachel M.;Gianniny, Lauren;Grallert, Harald;Grarup, Niels;Groves, Christopher J.;Guiducci, Candace;Hansen, Torben;Herder, Christian;Hitman, Graham A.;Hughes, Thomas E.;Isomaa, Bo;Jackson, Anne U.;Jorgensen, Torben;Kong, Augustine;Kubalanza, Kari;Kuruvilla, Finny G.;Kuusisto, Johanna;Langenberg, Claudia;Lango, Hana;Lauritzen, Torsten;Li, Yun;Lindgren, Cecilia M.;Lyssenko, Valeriya;Marvelle, Amanda F.;Meisinger, Christa;Midthjell, Kristian;Mohlke, Karen L.;Morken, Mario A.;Morris, Andrew D.;Narisu, Narisu;Nilsson, Peter;Owen, Katharine R.;Palmer, Colin N. A.;Payne, Felicity;Perry, John R. B.;Pettersen, Elin;Platou, Carl;Prokopenko, Inga;Qi, Lu;Qin, Li;Rayner, Nigel W.;Rees, Matthew;Roix, Jeffrey J.;Sandbaek, Anelli;Shields, Beverley;Sjogren, Marketa;Steinthorsdottir, Valgerdur;Stringham, Heather M.;Swift, Amy J.;Thorleifsson, Gudmar;Thorsteinsdottir, Unnur;Timpson, Nicholas J.;Tuomi, Tiinamaija;Tuomilehto, Jaakko;Walker, Mark;Watanabe, Richard M.;Weedon, Michael N.;Willer, Cristen J.;Illig, Thomas;Hveem, Kristian;Hu, Frank B.;Laakso, Markku;Stefansson, Kari;Pedersen, Oluf;Wareham, Nicholas J.;Barroso, Ines;Hattersley, Andrew T.;Collins, Francis S.;Groop, Leif;McCarthy, Mark I.;Boehnke, Michael;Altshuler, David
通讯作者：
Altshuler, David
影响因子：
9.8
作者：
Li, Bingshan;Leal, Suzanne M.
通讯作者：
Leal, Suzanne M.
影响因子：
30.8
作者：
Prokopenko I;Langenberg C;Florez JC;Saxena R;Soranzo N;Thorleifsson G;Loos RJ;Manning AK;Jackson AU;Aulchenko Y;Potter SC;Erdos MR;Sanna S;Hottenga JJ;Wheeler E;Kaakinen M;Lyssenko V;Chen WM;Ahmadi K;Beckmann JS;Bergman RN;Bochud M;Bonnycastle LL;Buchanan TA;Cao A;Cervino A;Coin L;Collins FS;Crisponi L;de Geus EJ;Dehghan A;Deloukas P;Doney AS;Elliott P;Freimer N;Gateva V;Herder C;Hofman A;Hughes TE;Hunt S;Illig T;Inouye M;Isomaa B;Johnson T;Kong A;Krestyaninova M;Kuusisto J;Laakso M;Lim N;Lindblad U;Lindgren CM;McCann OT;Mohlke KL;Morris AD;Naitza S;Orrù M;Palmer CN;Pouta A;Randall J;Rathmann W;Saramies J;Scheet P;Scott LJ;Scuteri A;Sharp S;Sijbrands E;Smit JH;Song K;Steinthorsdottir V;Stringham HM;Tuomi T;Tuomilehto J;Uitterlinden AG;Voight BF;Waterworth D;Wichmann HE;Willemsen G;Witteman JC;Yuan X;Zhao JH;Zeggini E;Schlessinger D;Sandhu M;Boomsma DI;Uda M;Spector TD;Penninx BW;Altshuler D;Vollenweider P;Jarvelin MR;Lakatta E;Waeber G;Fox CS;Peltonen L;Groop LC;Mooser V;Cupples LA;Thorsteinsdottir U;Boehnke M;Barroso I;Van Duijn C;Dupuis J;Watanabe RM;Stefansson K;McCarthy MI;Wareham NJ;Meigs JB;Abecasis GR
通讯作者：
Abecasis GR
影响因子：
30.8
作者：
Aulchenko, Yurii S.;Ripatti, Samuli;Lindqvist, Ida;Boomsma, Dorret;Heid, Iris M.;Pramstaller, Peter P.;Penninx, Brenda W. J. H.;Janssens, A. Cecile J. W.;Wilson, James F.;Spector, Tim;Martin, Nicholas G.;Pedersen, Nancy L.;Kyvik, Kirsten Ohm;Kaprio, Jaakko;Hofman, Albert;Freimer, Nelson B.;Jarvelin, Marjo-Riitta;Gyllensten, Ulf;Campbell, Harry;Rudan, Igor;Johansson, Asa;Marroni, Fabio;Hayward, Caroline;Vitart, Veronique;Jonasson, Inger;Pattaro, Cristian;Wright, Alan;Hastie, Nick;Pichler, Irene;Hicks, Andrew A.;Falchi, Mario;Willemsen, Gonneke;Hottenga, Jouke-Jan;de Geus, Eco J. C.;Montgomery, Grant W.;Whitfield, John;Magnusson, Patrik;Saharinen, Juha;Perola, Markus;Silander, Kaisa;Isaacs, Aaron;Sijbrands, Eric J. G.;Uitterlinden, Andre G.;Witteman, Jacqueline C. M.;Oostra, Ben A.;Elliott, Paul;Ruokonen, Aimo;Sabatti, Chiara;Gieger, Christian;Meitinger, Thomas;Kronenberg, Florian;Doering, Angela;Wichmann, H-Erich;Smit, Johannes H.;McCarthy, Mark I.;van Duijn, Cornelia M.;Peltonen, Leena
通讯作者：
Peltonen, Leena
影响因子：
30.8
作者：
Cooper, Jason D.;Smyth, Deborah J.;Smiles, Adam M.;Plagnol, Vincent;Walker, Neil M.;Allen, James E.;Downes, Kate;Barrett, Jeffrey C.;Healy, Barry C.;Mychaleckyj, Josyf C.;Warram, James H.;Todd, John A.
通讯作者：
Todd, John A.