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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| 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 |