The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

Molecular genetic approaches have evolved at astonishing pace in capacity, capability, and application in recent years, reflected by the increasingly routine use of whole exome sequencing (WES) in Mendelian and rare disorder diagnosis1 –3 and by the approximately 160 new disease–gene discoveries documented yearly.4 However, despite the revolutionary ascension of WES, 50% to 75% of patients remain without a genetic diagnosis (Fig. 1) 5–8 and, furthermore, more than 3000 Mendelian disorders are yet to be genetically defined.
Source: Clinics in Laboratory Medicine - Category: Laboratory Medicine Authors: Source Type: research