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Article

A method to delineate de novo missense variants across pathways prioritizes genes linked to autism.

Science translational medicine - 19 May 2021

Koire Amanda, Katsonis Panagiotis, Kim Young Won, Buchovecky Christie, Wilson Stephen J, Lichtarge Olivier

Abstract excerpt

Genotype-phenotype relationships shape health and population fitness but remain difficult to predict and interpret. Here, we apply an evolutionary action method to de novo missense variants in whole-exome sequences of individuals with autism spectrum disorder (ASD) to unravel genes and pathways connected to ASD. Evolutionary action predicts the impact of missense variants on protein function by measuring the...

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Identifiers

PMID: 34011629
DOI: 10.1126/scitranslmed.abc1739
PMCID: PMC8916821

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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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