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Using high-resolution variant frequencies to empower clinical genome interpretation
PURPOSE: Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognized as a necessary, although not sufficient, criterion for pathoge...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5563454/ https://ncbi.nlm.nih.gov/pubmed/28518168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.26 |
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