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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Detalles Bibliográficos
Autores principales: Ruklisa, Dace, Ware, James S, Walsh, Roddy, Balding, David J, Cook, Stuart A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
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

Internet

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

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