A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Revital Bronstein, Elizabeth E. Capowski, Sudeep Mehrotra, Alex D. Jansen, Daniel Navarro-Gomez, Mathew Maher, Emily Place, Riccardo Sangermano, Kinga M. Bujakowska, David M. Gamm, Eric A. Pierce
The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.
Human Molecular Genetics · Jan 21, 2020Peer-reviewedGenetics