Variant interpretation through Bayesian fusion of frequency and genomic knowledge

Variant interpretation is a central challenge in genomic medicine. A recent study demonstrates the power of Bayesian statistical approaches to improve interpretation of variants in the context of specific genes and syndromes. Such Bayesian approaches combine frequency (in the form of observed geneti...

Descripción completa

Detalles Bibliográficos
Autores principales: Shaw, Chad A, Campbell, Ian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308929/
https://www.ncbi.nlm.nih.gov/pubmed/25632303
http://dx.doi.org/10.1186/s13073-015-0129-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308929/
https://www.ncbi.nlm.nih.gov/pubmed/25632303
http://dx.doi.org/10.1186/s13073-015-0129-3

Ejemplares similares