Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

Mohammed Abu-AmeerhHashim Mohammad Zain DardasRaghda BarhamDema AliMaysa BijawiMohamed TawalbehSami AmrMa'mon M HatmalMuawyah Al-BdourAbdalla AwidiBelal Azab

Published in: Molecular genetics & genomic medicine (2020)

Our findings extend the spectrum of CLRN1- and ABCA4-associated IRDs and describe new phenotypes for these genes. We also highlighted the importance of combining molecular and clinical data to correctly diagnose IRDs and the utility of simulation analysis to predict the effect of splice donor variants on protein formation and function.

Keyphrases

copy number
genome wide
optical coherence tomography
diabetic retinopathy
electronic health record
single cell
protein protein
big data
amino acid
binding protein
gene expression
machine learning
deep learning
bioinformatics analysis
transcription factor