Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Abstract excerpt

BACKGROUND: Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring clinician to discuss new diagnostic opportunities in due time. We performed a systematic study of genetically undiagnosed patients 5 years after their initial...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomics and Rare Diseases
• Share to Hereditary Neurological Disorders
• Share to Neurogenetic and Muscular Disorders Research