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Article

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

Nucleic acids research - 8 Apr 2022

Jiang Lin, Jiang Hui, Dai Sheng, Chen Ying, Song Youqiang, Tang Clara Sze-Man, Pang Shirley Yin-Yu, Ho Shu-Leong, Wang Binbin, Garcia-Barcelo Maria-Mercedes, Tam Paul Kwong-Hang, Cherny Stacey S, Li Mulin Jun, Sham Pak Chung, Li Miaoxin

Abstract excerpt

Identifying rare variants that contribute to complex diseases is challenging because of the low statistical power in current tests comparing cases with controls. Here, we propose a novel and powerful rare variants association test based on the deviation of the observed mutation burden of a gene in cases from a baseline predicted by a weighted recursive truncated negative-binomial regression (RUNNER) on genomic...

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Identifiers

PMID: 34931221
DOI: 10.1093/nar/gkab1234
PMCID: PMC8989543

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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