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

Gamm, MD, PhD, D. A Combined RNA-Seq and Whole Genome Sequencing Approach for Identification of Non-Coding Pathogenic Variants in Single Families.
Bronstein R, Capowski EE, Mehrotra S, Jansen AD, Navarro-Gomez D, Maher M, Place E, Sangermano R, Bujakowska KM, Gamm DM, Pierce EA. (2020). A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. Human Molecular Genetics, 29(6):967-979. doi: 10.1093/hmg/ddaa016. PMID: 32011687; PMCID: PMC7158377.