A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases.

Karen E LeeJose S PulidoMariana Matioli da PalmaRebecca ProcopioRobert B HufnagelMargaret Reynolds

Published in: Genes (2023)

This novel study examining all genes implicated in IRDs found that the majority genes had a disorder in the 0 to 10th decile and were relatively intolerant to missense variation. This may have future utility when interpreting variants of undetermined significance and missense variants.

Keyphrases

copy number
genome wide
intellectual disability
bioinformatics analysis
optical coherence tomography
genome wide identification
diabetic retinopathy
current status
autism spectrum disorder