A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

P Meinke, ARW Kerr, R Czapiewski, I Jose, CR Dixon… – EBioMedicine, (2019) A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism… RNA-Seq: total RNA from biopsy tissue with rRNA depletion and random-primedcDNA preparation and PE100 sequencing on a Hi-Seq2000 platform with 20 million reads minimum (Otogenetics Corporation, Norcoss, USA) …