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Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants
Background: Existing BRCA2-specific variant pathogenicity prediction algorithms focus on the prediction of the functional impact of a subtype of variants alone. General variant effect predictors are applicable to all subtypes, but are trained on putative benign and pathogenic variants and do not acc...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561395/ https://www.ncbi.nlm.nih.gov/pubmed/36246618 http://dx.doi.org/10.3389/fgene.2022.982930 |