Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

Abstract Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lead to diminished protein function. Experimental approaches for identifying GOF and LOF are generally slow and costly, whilst available computational methods have not been...

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Principais autores:	David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2023-11-01
Series:	Genome Medicine
Assuntos:	Gain-of-function Loss-of-function Protein function Variant functional impact Pathogenicity prediction Precision medicine
Acceso en liña:	https://doi.org/10.1186/s13073-023-01261-9
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