Article
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.
BMJ open ophthalmology - 1 Aug 2022
Tanner Alexander, Chan Hwei Wuen, Schiff Elena, Mahroo Omar A, Pulido Jose S
Abstract excerpt
BACKGROUND: Large databases permit quantitative description of genes in terms of intolerance to loss of function ('haploinsufficiency') and prevalence of missense variants. We explored these parameters in inherited retinal disease (IRD) genes. METHODS: IRD genes (from the 'RetNet' resource) were classified by probability of loss of function intolerance (pLI) using online Genome Aggregation Database (gnomAD) and...
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