A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families
Bronstein, Revital, Elizabeth Capowski, Sudeep Mehrotra, Alex Jansen, Daniel Navarro-Gomez, Mathew Maher, Emily Place, et al. 2020. “A Combined RNA-Seq and Whole Genome Sequencing Approach for Identification of Non-Coding Pathogenic Variants in Single Families”. Hum Mol Genet 29 (6): 967-79.