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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genome Med
Päätekijät: Ruklisa, Dace, Ware, James S, Walsh, Roddy, Balding, David J, Cook, Stuart A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Linkit: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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