Article

Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases

2020-07-04

Abstract excerpt

The identification of rare variants that contribute to complex diseases is challenging due to low statistical power. Here we propose a novel and powerful rare variants association test based on the deviation of the observed mutational burden in a genomic region from a baseline mutation burden predicted by weighted recursive truncated negative-binomial regression (RUNNER) on genomic features available from public d...

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Literature Corpus work: 1b6676cf-49d7-55ad-96bb-a5e3deac2954
DOI: 10.1101/2020.07.04.186619

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