Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.

ABSTRACT: Whole genome sequencing has been an effective tool in the discovery of variants that cause rare diseases. In this study, we determined the suitability of a novel avidity sequencing approach for rare disease applications. We built a sample to results workflow, combining this sequencing technology with standard library preparation kits, analysis workflows, and interpretation tools. We applied the workflow to ten pedigrees with inherited retinal degeneration (IRD) phenotype. Candidate variants of interest identified through whole genome sequencing were further evaluated using segregation analysis in the additional family members. Potentially causal variants in known IRD genes were detected in five of the ten cases. These high confidence variants were found in ABCA4, CERKL, MAK, PEX6 and RDH12

SUBMITTER: Biswas P 

PROVIDER: S-EPMC11457586 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature