A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families
Revital Bronstein(Massachusetts Eye and Ear Infirmary), Eric A. Pierce(Broad Institute), Alex D. Jansen(University of Wisconsin–Madison), Mathew Maher(Massachusetts Eye and Ear Infirmary), Daniel Navarro-Gomez, David M. Gamm(McPherson College), Emily Place(MACOM (United States)), Elizabeth E. Capowski(University of Wisconsin–Madison), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Sudeep Mehrotra(Massachusetts Eye and Ear Infirmary), Riccardo Sangermano(Radboud University Nijmegen)
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