Article
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2017
Bujakowska Kinga M, Fernandez-Godino Rosario, Place Emily, Consugar Mark, Navarro-Gomez Daniel, White Joseph, Bedoukian Emma C, Zhu Xiaosong, Xie Hongbo M, Gai Xiaowu, Leroy Bart P, Pierce Eric A
Abstract excerpt
PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a...
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