Network‐Informed Gene Ranking Tackles Genetic Heterogeneity in Exome‐Sequencing Studies of Monogenic Disease

Genetic heterogeneity presents a significant challenge for the identification of monogenic disease genes. Whole‐exome sequencing generates a large number of candidate disease‐causing variants and typical analyses rely on deleterious variants being observed in the same gene across several unrelated a...

Descripción completa

Detalles Bibliográficos
Autores principales: Dand, Nick, Schulz, Reiner, Weale, Michael E., Southgate, Laura, Oakey, Rebecca J., Simpson, Michael A., Schlitt, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982032/
https://www.ncbi.nlm.nih.gov/pubmed/26394720
http://dx.doi.org/10.1002/humu.22906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982032/
https://www.ncbi.nlm.nih.gov/pubmed/26394720
http://dx.doi.org/10.1002/humu.22906

Ejemplares similares