Article
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Human molecular genetics - 15 Apr 2020
Bronstein Revital, Capowski Elizabeth E, Mehrotra Sudeep, Jansen Alex D, Navarro-Gomez Daniel, Maher Mathew, Place Emily, Sangermano Riccardo, Bujakowska Kinga M, Gamm David M, Pierce Eric A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.