Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Jamie M EllingfordBradley HornChristopher CampbellGavin ArnoStephanie BartonCatriona TateSanjeev BhaskarPanagiotis I SergouniotisRachel L TaylorKeren J CarssLucy F L RaymondMichel MichaelidesSimon C RamsdenAndrew R WebsterGraeme C M Black

Published in: Journal of medical genetics (2017)

Incorporation of CNV analysis increases diagnostic yield of gene panel NGS diagnostic tests for IRD, increases clarity in diagnostic reporting and expands the spectrum of known disease-causing mutations.

Keyphrases

copy number
genome wide
public health
optical coherence tomography
diabetic retinopathy
emergency department
gene expression
adverse drug