RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the American Journal of Human Genetics, researchers at Baylor College of Medicine’s Medical Genetics Multiomics Laboratory (MGML) show the utility and benefit of ultra-deep RNA sequencing in clinical diagnostics.
Researchers show benefit of ultra-deep RNA sequencing in Mendelian disorder diagnostics
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