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Article

Quantifying concordant genetic effects of de novo mutations on multiple disorders.

eLife - 6 Jun 2022

Guo Hanmin, Hou Lin, Shi Yu, Jin Sheng Chih, Zeng Xue, Li Boyang, Lifton Richard P, Brueckner Martina, Zhao Hongyu, Lu Qiongshi

Abstract excerpt

Exome sequencing on tens of thousands of parent-proband trios has identified numerous deleterious de novo mutations (DNMs) and implicated risk genes for many disorders. Recent studies have suggested shared genes and pathways are enriched for DNMs across multiple disorders. However, existing analytic strategies only focus on genes that reach statistical significance for multiple disorders and require large trio...

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Identifiers

PMID: 35666111
DOI: 10.7554/eLife.75551
PMCID: PMC9217133

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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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