Article
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
PloS one - 1 Jan 2015
Almoguera Berta, Li Jiankang, Fernandez-San Jose Patricia, Liu Yichuan, March Michael, Pellegrino Renata, Golhar Ryan, Corton Marta, Blanco-Kelly Fiona, López-Molina Maria Isabel, García-Sandoval Blanca, Guo Yiran, Tian Lifeng, Liu Xuanzhu, Guan Liping, Zhang Jianguo, Keating Brendan, Xu Xun, Hakonarson Hakon, Ayuso Carmen
Abstract excerpt
This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes. Thirty-eight individuals were subjected to WES. Causative variants were searched among single nucleotide variants (SNVs) and insertion/deletion variants (indels) and whenever no potential candidate emerged, copy...
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