Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes

Conclusion This analysis is the most extensive one to include CNVs to examine IRD causing genes in the Israeli and Palestinian populations. It has allowed us to identify the causative variant of many patients with IRDs including ones with unclear diagnoses and potential novel genes.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Genotype-phenotype correlations Source Type: research