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Article

Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.

Cell reports methods - 16 Dec 2024

Petrazzini Ben O, Balick Daniel J, Forrest Iain S, Cho Judy, Rocheleau Ghislain, Jordan Daniel M, Do Ron

Abstract excerpt

Mode of inheritance (MOI) is necessary for clinical interpretation of pathogenic variants; however, the majority of variants lack this information. Furthermore, variant effect predictors are fundamentally insensitive to recessive-acting diseases. Here, we present MOI-Pred, a variant pathogenicity prediction tool that accounts for MOI, and ConMOI, a consensus method that integrates variant MOI predictions from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39657681
DOI: 10.1016/j.crmeth.2024.100914
PMCID: PMC11704621

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