Doubling Diagnostic Yield with DISGENET

August 29, 2025

Introducing Dr. Chetta: Principal Investigator & Senior Geneticist Dr. Massimiliano Chetta and his team at A.O.R.N. Cardarelli Hospital in Naples, Italy, dramatically increased its diagnostic yield—from 35% to 80–85%—by embedding DISGENET into its clinical exome sequencing workflow. This represents not only an increase in detection rate but also a fundamental change in diagnostic methodology, transitioning […]

How Harvard Accelerates Research & Student Learning with DISGENET

March 24, 2025

Introducing Alba: Harvard Bioinformatics Instructor & Researcher Alba Gutiérrez-Sacristán, an instructor in Biomedical Informatics at Harvard Medical School, uses DISGENET in both her research and teaching. “When they told me, I have been doing a search about this variant here and there and there, it’s like, did you check DISGENET? You could have got this […]