Article Abstract

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

Authors: Dong Li, Lifeng Tian, Hakon Hakonarson


Whole exome sequencing (WES) has proven to be a powerful tool for the diagnosis of Mendelian disorders. Most studies on the application of WES have reported a diagnostic yield of 25–50% (1-4), leaving a significant number of undiagnosed cases.