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

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 optimize...

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Detalles Bibliográficos
Autores principales: Stein, David, Kars, Meltem Ece, Wu, Yiming, Bayrak, Çiğdem Sevim, Stenson, Peter D., Cooper, David N., Schlessinger, Avner, Itan, Yuval
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688473/
https://www.ncbi.nlm.nih.gov/pubmed/38037155
http://dx.doi.org/10.1186/s13073-023-01261-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688473/
https://www.ncbi.nlm.nih.gov/pubmed/38037155
http://dx.doi.org/10.1186/s13073-023-01261-9

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