genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools

被引:18
作者
Perreault, Louis-Philippe Lemieux [1 ]
Legault, Marc-Andre [1 ,2 ]
Asselin, Geraldine [1 ]
Dube, Marie-Pierre [1 ,3 ]
机构
[1] Beaulieu Saucier Univ Montreal, Res Ctr, Pharmacogen Ctr, Montreal Heart Inst, Montreal, PQ H1T 1C8, Canada
[2] Univ Montreal, Dept Biochem & Mol Med, Montreal, PQ H3T 1J4, Canada
[3] Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada
关键词
ASSOCIATION;
D O I
10.1093/bioinformatics/btw487
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Genotype imputation is now commonly performed following genome-wide genotyping experiments. Imputation increases the density of analyzed genotypes in the dataset, enabling fine-mapping across the genome. However, the process of imputation using the most recent publicly available reference datasets can require considerable computation power and the management of hundreds of large intermediate files. We have developed genipe, a complete genome-wide imputation pipeline which includes automatic reporting, imputed data indexing and management, and a suite of statistical tests for imputed data commonly used in genetic epidemiology (Sequence Kernel Association Test, Cox proportional hazards for survival analysis, and linear mixed models for repeated measurements in longitudinal studies).
引用
收藏
页码:3661 / 3663
页数:3
相关论文
共 8 条
[1]  
[Anonymous], P 9 PYTH SCI C
[2]  
Delaneau O, 2012, NAT METHODS, V9, P179, DOI [10.1038/NMETH.1785, 10.1038/nmeth.1785]
[3]   A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies [J].
Howie, Bryan N. ;
Donnelly, Peter ;
Marchini, Jonathan .
PLOS GENETICS, 2009, 5 (06)
[4]   Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants [J].
Ionita-Laza, Iuliana ;
Lee, Seunggeun ;
Makarov, Vlad ;
Buxbaum, Joseph D. ;
Lin, Xihong .
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) :841-853
[5]   Genotype imputation for genome-wide association studies [J].
Marchini, Jonathan ;
Howie, Bryan .
NATURE REVIEWS GENETICS, 2010, 11 (07) :499-511
[6]   PLINK: A tool set for whole-genome association and population-based linkage analyses [J].
Purcell, Shaun ;
Neale, Benjamin ;
Todd-Brown, Kathe ;
Thomas, Lori ;
Ferreira, Manuel A. R. ;
Bender, David ;
Maller, Julian ;
Sklar, Pamela ;
de Bakker, Paul I. W. ;
Daly, Mark J. ;
Sham, Pak C. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (03) :559-575
[7]   GWAS with longitudinal phenotypes: performance of approximate procedures [J].
Sikorska, Karolina ;
Montazeri, Nahid Mostafavi ;
Uitterlinden, Andre ;
Rivadeneira, Fernando ;
Eilers, Paul H. C. ;
Lesaffre, Emmanuel .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (10) :1384-1391
[8]   Evaluation of methodology for the analysis of 'time-to-event' data in pharmacogenomic genome-wide association studies [J].
Syed, Hamzah ;
Jorgensen, Andrea L. ;
Morris, Andrew P. .
PHARMACOGENOMICS, 2016, 17 (08) :907-915