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

2020109 citationsJournal Articlehybrid Open Access

Authors

Erin Zampaglione · Massachusetts Eye and Ear Infirmary

Benyam Kinde · Harvard University

Emily Place · Harvard University

Daniel Navarro-Gomez · Harvard University

Matthew Maher · Harvard University

Farzad Jamshidi · Harvard University

Sherwin Nassiri ·

Abstract

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.

Topics & Keywords

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Publication Details

Published in: Genetics in Medicine

Volume 22, Issue 6, pp. 1079-1087

DOI: 10.1038/s41436-020-0759-8

Field-Weighted Citation Impact: 11.33

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

Authors

Abstract

Topics & Keywords

Publication Details