Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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Science Translational Medicine  19 Apr 2017:
Vol. 9, Issue 386, eaal5209
DOI: 10.1126/scitranslmed.aal5209

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RNA analysis for patients

Although genome and exome sequencing are becoming increasingly common and are often useful in diagnosing unexplained genetic disease, more than half of all patients remain undiagnosed by these methods. Cummings et al. have now gone one step further, using RNA sequencing to evaluate patients with undiagnosed muscle disorders. With this approach, the authors were able to provide a diagnosis for another 35% of their patients, suggesting its potential utility for clinical genetic evaluation. The authors also identified a new disease-causing mutation in collagen VI and validated it in an additional cohort of patients with undiagnosed collagen dystrophy, again successfully diagnosing a sizeable percentage of patients.