Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Hane LeeAlden Y HuangLee-Kai WangAmanda J YoonGenecee RenteriaAscia EskinRebecca H SignerNaghmeh DorraniShirley Nieves-RodriguezJijun WanEmilie D DouineJeremy D WoodsEsteban C Dell'AngelicaBrent L FogelMartin G MartinManish J ButteNeil H ParkerRichard T WangPerry B ShiehDerek A WongNatalie GallantKathryn E SinghY Jane Tavyev AsherJanet S SinsheimerDeborah KrakowSandra K LooPatrick AllardJeanette C Pappnull nullChristina G S PalmerJulian A Martinez-AgostoStanley F NelsonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
In this rare disease cohort with a wide spectrum of undiagnosed, suspected genetic conditions, RNAseq analysis increased the molecular diagnostic rate above that possible with genome sequencing analysis alone even without availability of the most appropriate tissue type to assess.