A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood
Abstract
In order to evaluate whether rare regulatory variants in the vicinity of promoters are likely to impact gene expression, we conducted a novel burden test for enrichment of rare variants at the extremes of expression. After sequencing 2-kb promoter regions of 472 genes in 410 healthy adults, we performed a quadratic regression of rare variant count on bins of peripheral blood transcript abundance from microarrays, summing over ranks of all genes....
Paper Details
Title
A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood
Published Date
Feb 1, 2016
Volume
98
Issue
2
Pages
299 - 309
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