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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Bibliografiske detaljer
Udgivet i:	Genome Med
Main Authors:	Ruklisa, Dace, Ware, James S, Walsh, Roddy, Balding, David J, Cook, Stuart A
Format:	Artigo
Sprog:	Inglês
Udgivet:	BioMed Central 2015
Fag:	Research
Online adgang:	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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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

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