Mor Hanany

TL;DR: This study aimed at calculating how many individuals are affected with an autosomal recessive form of inherited retinal disease (IRD) or carry a mutation that can be transmitted to future generations, and developed an algorithm to compute the gene-specific prevalence of disease, as well as the mutational burden in healthy subjects.

TL;DR: A comprehensive analysis of WES data as a tool for identifying large genomic deletions in patients with IRDs indicates that large deletions are relatively frequent and should be screened when analysing Wes data.

TL;DR: The Global Retinal Inherited Disease (GRID) dataset as mentioned in this paper contains 4798 discrete variants and 17,299 alleles published in 31 papers, showing a wide range of frequencies and complexities among the 194 genes reported in GRID.

TL;DR: The results should serve as a warning sign for geneticists, variant database curators and sequencing panels’ developers not to automatically accept reported variants as pathogenic but cross-reference the information with large databases.

TL;DR: The total carrier frequency for AR-IRD mutations in the Israeli population is estimated as over 30%, a relatively high carrier frequency with marked variability among subpopulations, which is highly important for more reliable genetic counseling and genetic screening.