A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.

ABSTRACT: Inherited retinal degenerations (IRDs) are at the focus of current genetic therapeutic advancements. For a genetic treatment such as gene therapy to be successful, an accurate genetic diagnostic is required. Genetic diagnostics relies on the assessment of the probability that a given DNA variant is pathogenic. Non-coding variants present a unique challenge for such assessments as compared to coding variants. For one, non-coding variants are present at much higher number in the genome than coding variants. In addition, our understanding of the rules that govern the non-coding regions of the genome is less complete than our understanding of the coding regions. Methods that allow for both the identification of candidate non-coding pathogenic variants and their functional validation may help o

SUBMITTER: Bronstein R 

PROVIDER: S-EPMC7158377 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature