Next-generation genotype imputation service and methods.
Next-generation genotype imputation service and methods.
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DOI：
10.1038/ng.3656
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发表时间：
2016-10
期刊：
影响因子：
30.8
通讯作者：
Fuchsberger, Christian
中科院分区：
文献类型：
--
作者：
Das, Sayantan;Forer, Lukas;Schoenherr, Sebastian;Sidore, Carlo;Locke, Adam E.;Kwong, Alan;Vrieze, Scott I.;Chew, Emily Y.;Levy, Shawn;McGue, Matt;Schlessinger, David;Stambolian, Dwight;Loh, Po-Ru;Iacono, William G.;Swaroop, Anand;Scott, Laura J.;Cucca, Francesco;Kronenberg, Florian;Boehnke, Michael;Abecasis, Goncalo R.;Fuchsberger, Christian
基因型插补是遗传关联研究的一个关键组成部分，它增加了力量，促进荟萃分析，并有助于解释信号。基因型插补在计算上要求很高，并且使用当前的工具，通常需要访问高性能计算集群和测序基因组的参考面板。在这里，我们描述了改进的插补机器，减少计算要求超过一个数量级，没有损失的准确性相比，标准插补工具。我们还描述了一个新的基于Web的服务，方便访问新的参考面板，大大提高了用户体验和生产力的插补。
Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.
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DOI：
10.1126/science.1215040
发表时间：
2012-02-17
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
MacArthur DG;Balasubramanian S;Frankish A;Huang N;Morris J;Walter K;Jostins L;Habegger L;Pickrell JK;Montgomery SB;Albers CA;Zhang ZD;Conrad DF;Lunter G;Zheng H;Ayub Q;DePristo MA;Banks E;Hu M;Handsaker RE;Rosenfeld JA;Fromer M;Jin M;Mu XJ;Khurana E;Ye K;Kay M;Saunders GI;Suner MM;Hunt T;Barnes IH;Amid C;Carvalho-Silva DR;Bignell AH;Snow C;Yngvadottir B;Bumpstead S;Cooper DN;Xue Y;Romero IG;1000 Genomes Project Consortium;Wang J;Li Y;Gibbs RA;McCarroll SA;Dermitzakis ET;Pritchard JK;Barrett JC;Harrow J;Hurles ME;Gerstein MB;Tyler-Smith C
通讯作者：
Tyler-Smith C
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1056/nejmoa1405386
发表时间：
2014-11-27
期刊：
The New England journal of medicine
影响因子：
--
作者：
Myocardial Infarction Genetics Consortium Investigators;Stitziel NO;Won HH;Morrison AC;Peloso GM;Do R;Lange LA;Fontanillas P;Gupta N;Duga S;Goel A;Farrall M;Saleheen D;Ferrario P;König I;Asselta R;Merlini PA;Marziliano N;Notarangelo MF;Schick U;Auer P;Assimes TL;Reilly M;Wilensky R;Rader DJ;Hovingh GK;Meitinger T;Kessler T;Kastrati A;Laugwitz KL;Siscovick D;Rotter JI;Hazen SL;Tracy R;Cresci S;Spertus J;Jackson R;Schwartz SM;Natarajan P;Crosby J;Muzny D;Ballantyne C;Rich SS;O'Donnell CJ;Abecasis G;Sunaev S;Nickerson DA;Buring JE;Ridker PM;Chasman DI;Austin E;Kullo IJ;Weeke PE;Shaffer CM;Bastarache LA;Denny JC;Roden DM;Palmer C;Deloukas P;Lin DY;Tang ZZ;Erdmann J;Schunkert H;Danesh J;Marrugat J;Elosua R;Ardissino D;McPherson R;Watkins H;Reiner AP;Wilson JG;Altshuler D;Gibbs RA;Lander ES;Boerwinkle E;Gabriel S;Kathiresan S
通讯作者：
Kathiresan S
影响因子：
30.8
作者：
Francioli, Laurent C.;Menelaou, Andronild;Wijmenga, Cisca
通讯作者：
Wijmenga, Cisca
影响因子：
30.8
作者：
Abecasis, GR;Cherny, SS;Cardon, LR
通讯作者：
Cardon, LR