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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification
Many in silico predictors of genetic variant pathogenicity have been previously developed, but there is currently no standard application of these algorithms for variant assessment. Using 4,094 ClinVar-curated missense variants in clinically actionable genes, we evaluated the accuracy and yield of b...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726608/ https://www.ncbi.nlm.nih.gov/pubmed/31484976 http://dx.doi.org/10.1038/s41598-019-49224-8 |