Statistical analysis for genome-wide association study

J Biomed Res. 2015 Jul;29(4):285-97. doi: 10.7555/JBR.29.20140007. Epub 2014 Nov 30.

Abstract

In the past few years, genome-wide association study (GWAS) has made great successes in identifying genetic susceptibility loci underlying many complex diseases and traits. The findings provide important genetic insights into understanding pathogenesis of diseases. In this paper, we present an overview of widely used approaches and strategies for analysis of GWAS, offered a general consideration to deal with GWAS data. The issues regarding data quality control, population structure, association analysis, multiple comparison and visual presentation of GWAS results are discussed; other advanced topics including the issue of missing heritability, meta-analysis, set-based association analysis, copy number variation analysis and GWAS cohort analysis are also briefly introduced.

Keywords: copy number variation; genetic model; genome-wide association study; meta-analysis; missing heritability; multiple comparison; population structure; quality control; statistical model.

Publication types

  • Review