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: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2023-11-01
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| coleção: | Genome Medicine |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13073-023-01261-9 |
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