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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...
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| Publicado no: | Genome Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4308924/ https://ncbi.nlm.nih.gov/pubmed/25649125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-014-0120-4 |
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