Journal article

Rare-variant collapsing analyses for complex traits: guidelines and applications

Gundula Povysil, Slave Petrovski, Joseph Hostyk, Vimla Aggarwal, Andrew S Allen, David B Goldstein

Nature Reviews Genetics | NATURE PUBLISHING GROUP | Published : 2019


The first phase of genome-wide association studies (GWAS) assessed the role of common variation in human disease. Advances optimizing and economizing high-throughput sequencing have enabled a second phase of association studies that assess the contribution of rare variation to complex disease in all protein-coding genes. Unlike the early microarray-based studies, sequencing-based studies catalogue the full range of genetic variation, including the evolutionarily youngest forms. Although the experience with common variants helped establish relevant standards for genome-wide studies, the analysis of rare variation introduces several challenges that require novel analysis approaches.

University of Melbourne Researchers