Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.

In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease. Junctional epidermolysis bullosa is a recessive genodermatosis that manifests with neonatal...

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Bibliographic Details
Main Authors: Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, Julio Benavides, Valentín Perez, Gwenola Tosser-Klopp, Christophe Klopp, Stephen J Keennel, Juan José Arranz
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4425408?pdf=render