A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

ABSTRACT: To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis pipelines. Herein, we aimed to define a WGS-based algorithm for the accurate interpretation of variants in inherited retinal dystrophies (IRD). This study comprised 429 phenotyped individuals divided into three cohorts. A comparison of 14 pathogenicity predictors, and the re-definition of its cutoffs, were performed using panel-sequencing curated data from 209 genetically diagnosed individuals with IRD (training cohort). The optimal tool combinations, previously validated in 50 additional IRD individuals, were also tested in patients with hereditary cancer (n = 109), and with neurological diseases (n = 47) to evaluate the translational value of this approach (validat

SUBMITTER: Gonzalez-Del Pozo M 

PROVIDER: S-EPMC8897414 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature