Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes.

Alexander Tanner Hwei Wuen ChanElena SchiffOmar A MahrooJose S Pulido

Published in: BMJ open ophthalmology (2022)

A minority of IRD-associated genes appear to be 'haploinsufficient'. Over-representation of spliceosome pathways was observed. When interpreting genetic tests, variants found in genes with over-representation of missense variants should be interpreted with caution.

Keyphrases

copy number
genome wide
intellectual disability
dna methylation
bioinformatics analysis
genome wide identification
optical coherence tomography
diabetic retinopathy
genome wide analysis
rna seq
single cell
neural network
autism spectrum disorder
optic nerve
gene expression
transcription factor