A Zoom-Focus algorithm (ZFA) to locate the optimal testing region for rare variant association tests.

Abstract excerpt

MOTIVATION: Increasing amounts of whole exome or genome sequencing data present the challenge of analysing rare variants with extremely small minor allele frequencies. Various statistical tests have been proposed, which are specifically configured to increase power for rare variants by conducting the test within a certain bin, such as a gene or a pathway. However, a gene may contain from several to thousands of...

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