Open AccessIdentification of Influential Variants in Significant Aggregate Rare Variant Tests
Author(s) -
Rachel Z. Blumhagen,
David A. Schwartz,
Carl D. Langefeld,
Tasha E. Fingerlin
Publication year - 2020
Publication title -
human heredity
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.423
H-Index - 62
eISSN - 1423-0062
pISSN - 0001-5652
DOI - 10.1159/000513290
Subject(s) - outlier , bayesian probability , interquartile range , computational biology , statistics , genetics , biology , mathematics
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.