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

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Povysil, G; Petrovski, S; Hostyk, J; Aggarwal, V; Allen, AS; Goldstein, DB

Published Date

  • December 2019

Published In

Volume / Issue

  • 20 / 12

Start / End Page

  • 747 - 759

PubMed ID

  • 31605095

Electronic International Standard Serial Number (EISSN)

  • 1471-0064

Digital Object Identifier (DOI)

  • 10.1038/s41576-019-0177-4


  • eng

Conference Location

  • England