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Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets
Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and the difficulty of experimentally evaluating its clinical signif...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633260/ https://www.ncbi.nlm.nih.gov/pubmed/31235655 http://dx.doi.org/10.1101/gr.240994.118 |