Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders

The June 2018 issue of Clinical Chemistry published a Perspective article titled, “Clinical Utility of Transcriptome Sequencing: Towards a Better Diagnosis for Mendelian Disorders.”  In it, the authors Drs. Sumant Chakravorty and Madhuri Hegde discussed the impact of findings by Cummings and colleagues, who have shown for the first time in 2017 the clinical utility of next generation sequencing based transcriptome sequencing to increase molecular diagnostic yield by sequencing RNA.