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

Summary: 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 pathoge...

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Autors principals:	Ben O. Petrazzini, Daniel J. Balick, Iain S. Forrest, Judy Cho, Ghislain Rocheleau, Daniel M. Jordan, Ron Do
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2024-12-01
Col·lecció:	Cell Reports: Methods
Matèries:	CP: genetics CP: systems biology
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2667237524003047
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