Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants

Affiliations

• ¹ Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
• ² Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
• ³ Divisions of Human Genetics and Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.