GeneticsHuman Molecular GeneticsPeer-reviewed
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…·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.
26 citations