Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants

Here, the authors report a genome-wide association analysis for corneal resistance factor (CRF), a measure of corneal biomechanical properties relevant to a number of corneal diseases. They identify 135 loci associated with CRF and use fine-mapping and ATAC-seq in human cornea cell lines to identify...

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Autores principales: Xinyi Jiang, Nefeli Dellepiane, Erola Pairo-Castineira, Thibaud Boutin, Yatendra Kumar, Wendy A. Bickmore, Veronique Vitart
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/acf6f0549b5e4be2b8d0c1d371bee340
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Sumario:Here, the authors report a genome-wide association analysis for corneal resistance factor (CRF), a measure of corneal biomechanical properties relevant to a number of corneal diseases. They identify 135 loci associated with CRF and use fine-mapping and ATAC-seq in human cornea cell lines to identify putative causal variants affecting gene expression.