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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity
BACKGROUND: With the advent of affordable and comprehensive sequencing technologies, access to molecular genetics for clinical diagnostics and research applications is increasing. However, variant interpretation remains challenging, and tools that close the gap between data generation and data inter...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308924/ https://www.ncbi.nlm.nih.gov/pubmed/25649125 http://dx.doi.org/10.1186/s13073-014-0120-4 |