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MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning
Multiple computational approaches have been developed to improve our understanding of genetic variants. However, their ability to identify rare pathogenic variants from rare benign ones is still lacking. Using context annotations and deep learning methods, we present pathogenicity prediction models,...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548151/ https://www.ncbi.nlm.nih.gov/pubmed/36209109 http://dx.doi.org/10.1186/s13073-022-01120-z |