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Rare-Variant Studies to Complement Genome-Wide Association Studies

Authors
  • Sazonovs, A.
  • Barrett, J.C.
Type
Published Article
Journal
Annual Review of Genomics and Human Genetics
Publisher
Annual Reviews
Publication Date
Aug 31, 2018
Volume
19
Pages
97–112
Identifiers
DOI: 10.1146/annurev-genom-083117-021641
Source
Annual Reviews
Keywords
License
Yellow

Abstract

Genome-wide association studies (GWASs) have revolutionized human disease genetics by discovering tens of thousands of associations between common variants and complex diseases. In parallel, huge technological advances in DNA sequencing have made it possible to measure and analyze rare variation in populations. This review considers these two stories and how they have come together. We first review the history of GWASs and sequencing. We then consider how to understand the biological mechanisms that drive signals of strong association in the absence of rare-variant studies. We describe how rare-variant studies complement these approaches and highlight both data generation and statistical challenges in their interpretation. Finally, we consider how certain special study designs, such as those for families and isolated populations, fit in this paradigm.

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