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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...

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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

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