NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

ABSTRACT: Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured phenotypic ontology and next-generation sequencing (NGS)-based pipelines. A prospective and retrospective cohort study was performed on 100 probands with an a priori diagnosis of non-Usher SRDs, using available clinical data, including Human Phenotype Ontology annotation, and further classification into seven clinical categories (ciliopathies, specific syndromes and five others). Retrospective molecular diagnosis was assessed using different molecular and bioinformatic methods depending on availability. Subsequently, uncharacterized probands were pr

SUBMITTER: Perea-Romero I 

PROVIDER: S-EPMC8553673 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature