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How good are pathogenicity predictors in detecting benign variants?
Computational tools are widely used for interpreting variants detected in sequencing projects. The choice of these tools is critical for reliable variant impact interpretation for precision medicine and should be based on systematic performance assessment. The performance of the methods varies widel...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386394/ https://www.ncbi.nlm.nih.gov/pubmed/30742610 http://dx.doi.org/10.1371/journal.pcbi.1006481 |