Researchers show benefit of ultra-deep RNA sequencing in Mendelian disorder diagnostics

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...
Baylor College of Medicine

Baylor researchers develop and validate clinical diagnostic RNA sequencing test

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...