Exome sequencing: Dual role as a discovery and diagnostic tool

Abstract excerpt

Recent developments in high-throughput sequence capture methods and next-generation sequencing technologies have now made exome sequencing a viable approach to elucidate the genetic basis of Mendelian disorders with hitherto unknown etiology. In addition, exome sequencing is increasingly being employed as a diagnostic tool for specific genetic diseases, particularly in the context of those disorders characterized...

Topics

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

• Share to Genomics and Rare Diseases
• Share to Lysosomal Storage Disorders Research
• Share to RNA regulation and disease