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Article

Incorporating Functional Information in Tests of Excess De Novo Mutational Load.

American journal of human genetics - 6 Aug 2015

Jiang Yu, Han Yujun, Petrovski Slavé, Owzar Kouros, Goldstein David B, Allen Andrew S

Abstract excerpt

A number of recent studies have investigated the role of de novo mutations in various neurodevelopmental and neuropsychiatric disorders. These studies attempt to implicate causal genes by looking for an excess load of de novo mutations within those genes. Current statistical methods for assessing this excess are based on the implicit assumption that all qualifying mutations in a gene contribute equally to...

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Identifiers

PMID: 26235986
DOI: 10.1016/j.ajhg.2015.06.013
PMCID: PMC4573447

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

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