Identifying individual risk rare variants using protein structure guided local tests (POINT).

ABSTRACT: Rare variants are of increasing interest to genetic association studies because of their etiological contributions to human complex diseases. Due to the rarity of the mutant events, rare variants are routinely analyzed on an aggregate level. While aggregation analyses improve the detection of global-level signal, they are not able to pinpoint causal variants within a variant set. To perform inference on a localized level, additional information, e.g., biological annotation, is often needed to boost the information content of a rare variant. Following the observation that important variants are likely to cluster together on functional domains, we propose a protein structure guided local test (POINT) to provide variant-specific association information using structure-guided aggregation of si

SUBMITTER: Marceau West R 

PROVIDER: S-EPMC6396946 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature