Identification of Influential Variants in Significant Aggregate Rare Variant Tests.

ABSTRACT:

Introduction

Studies that examine the role of rare variants in both simple and complex disease are increasingly common. Though the usual approach of testing rare variants in aggregate sets is more powerful than testing individual variants, it is of interest to identify the variants that are plausible drivers of the association. We present a novel method for prioritization of rare variants after a significant aggregate test by quantifying the influence of the variant on the aggregate test of association.

Methods

In addition to providing a measure used to rank variants, we use outlier detection methods to present the computationally efficient Rare Variant Influential Filtering Tool (RIFT) to identify a subset of variants that influence the disease association. We evaluated sev

SUBMITTER: Blumhagen RZ 

PROVIDER: S-EPMC8353006 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature