Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Kinga M BujakowskaRosario Fernandez-GodinoEmily PlaceMark ConsugarDaniel Navarro-GomezJoseph White Emma C BedoukianXiaosong ZhuHongbo M XieXiaowu GaiBart P LeroyEric A Pierce

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

CNV mapping substantially increased the genetic diagnostic rate of IRDs, detecting genetic causality in 18% of previously unsolved cases. Extending the search to other structural variations will probably demonstrate an even higher contribution to genetic causality of IRDs.Genet Med advance online publication 13 October 2016.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
adverse drug
optical coherence tomography
healthcare
health information
electronic health record