FINEMAP: efficient variable selection using summary data from genome-wide association studies

被引:455
作者
Benner, Christian [1 ,2 ]
Spencer, Chris C. A. [3 ]
Havulinna, Aki S. [4 ]
Salomaa, Veikko [4 ]
Ripatti, Samuli [1 ,2 ,5 ]
Pirinen, Matti [1 ]
机构
[1] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland
[2] Univ Helsinki, Dept Publ Hlth, Helsinki, Finland
[3] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
[4] Natl Inst Hlth & Welf THL, Helsinki, Finland
[5] Wellcome Trust Sanger Inst, Wellcome Genome Campus, Hinxton, England
基金
芬兰科学院; 英国惠康基金;
关键词
CAUSAL VARIANTS; STATISTICS; IMPUTATION;
D O I
10.1093/bioinformatics/btw018
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Motivation: The goal of fine-mapping in genomic regions associated with complex diseases and traits is to identify causal variants that point to molecular mechanisms behind the associations. Recent fine-mapping methods using summary data from genome-wide association studies rely on exhaustive search through all possible causal configurations, which is computationally expensive. Results: We introduce FINEMAP, a software package to efficiently explore a set of the most important causal configurations of the region via a shotgun stochastic search algorithm. We show that FINEMAP produces accurate results in a fraction of processing time of existing approaches and is therefore a promising tool for analyzing growing amounts of data produced in genome-wide association studies and emerging sequencing projects.
引用
收藏
页码:1493 / 1501
页数:9
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