Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Clinical validation of RNA sequencing for Mendelian disorder diagnostics
Sen Zhao, Kristina Macakova, Jefferson C. Sinson…·Pengfei Liu
This study validates a clinical RNA-seq test for diagnosing Mendelian disorders using 150 samples, achieving over 99% sensitivity and specificity.
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