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DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features
Despite the increasing use of genomic sequencing in clinical practice, the interpretation of rare genetic variants remains challenging even in well-studied disease genes, resulting in many patients with Variants of Uncertain Significance (VUSs). Computational Variant Effect Predictors (VEPs) provide...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115847/ https://www.ncbi.nlm.nih.gov/pubmed/37076482 http://dx.doi.org/10.1038/s41467-023-37661-z |