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Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants
BACKGROUND: Genomics diagnostic tests are done for a wide spectrum of complex genetics conditions such as autism and cancer. The growth of technology has not only aided in successfully decoding the genetic variants that causes or trigger these disorders. However, interpretation of these variants is...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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PeerJ Inc.
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884988/ https://www.ncbi.nlm.nih.gov/pubmed/31799076 http://dx.doi.org/10.7717/peerj.8106 |