Rare genetic disorders: Beyond whole-exome sequencing

Abstract

Whole exome sequencing is commonly used as clinical exome in almost every hospital to diagnose rare and complex genetic disorders. Still, there are a lot of undiagnosed patients that require correct molecular diagnosis for treatment strategies. Different techniques such as structural variants, STRs, long read sequencing, pan genomics, proteomics, transcriptomics etc could be employed to check the undiagnosed/negative cases.

Keywords: clinical research; molecular genetics; neurodegenerative disease.