Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-Analysis of Noncoding Variation in Metabochip Data

Substantial progress has been made in the functional annotation of genetic variation in the human genome. Integrative analysis that incorporates such functional annotations into sequencing studies can aid the discovery of disease-associated genetic variants, especially those with unknown function and located outside protein-coding regions. Direct incorporation of one functional annotation as weight in existing dispersion and burden tests can suffer substantial loss of power when the functional annotation is not predictive of the risk status of a variant.

Source: The American Journal of Human Genetics - August 24, 2017 Category: Genetics & Stem Cells Authors: Zihuai He, Bin Xu, Seunggeun Lee, Iuliana Ionita-Laza Tags: Article Source Type: research