Data from: Combining GWAS and RNA-seq approaches for detection of the causal mutation for hereditary junctional epidermolysis bullosa in sheep

Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, Julio Benavides, Valentín Perez, Gwenola Tosser-Klopp, Christophe Klopp, Stephen J. Keennel & Juan José Arranz
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 mechanical fragility of the skin, blistering confined to the lamina lucida of the basement membrane and severe alteration of the hemidesmosomal junctions. In Spanish Churra sheep, junctional epidermolysis bullosa (JEB)...
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