Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Erin ZampaglioneBenyam KindeEmily M PlaceDaniel Navarro-GomezMatthew MaherFarzad JamshidiSherwin NassiriJ Alex MazzoneCaitlin FinnDana SchlegelJason ComanderEric A PierceKinga M Bujakowska

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

CNV detection using NGS-based algorithms is a reliable method that greatly increases the genetic diagnostic rate of IRDs. Experimentally validating CNVs helps estimate the rate at which IRDs might be solved by a CNV plus a more elusive variant.

Keyphrases

copy number
mitochondrial dna
genome wide
machine learning
dna methylation
optical coherence tomography
diabetic retinopathy
deep learning
gene expression
real time pcr
pseudomonas aeruginosa
cystic fibrosis