REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification
Abstract 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 y...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Béarla |
| Foilsithe / Cruthaithe: |
2019
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| Rochtain ar líne: | https://doi.org/10.1038/s41598-019-49224-8 https://www.nature.com/articles/s41598-019-49224-8.pdf |
| Clibeanna: |
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