HIGHLIGHTS
- who: Vicente A. Yu00e9pez from the Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany have published the Article: Clinical implementation of RNA sequencing for Mendelian disease diagnostics, in the Journal: (JOURNAL) of June/12,/2017
- what: The authors report on the experience on the implementation of RNA-seq into clinical diagnostics using patientderived skin fibroblasts (Fig 1). The authors demonstrate the application of the validated computational workflow, DROP , which integrates preprocessing and quality_control steps, as well as modules for detecting aberrant expression, aberrant splicing, and MAE (Fig 1), and to . . .
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