Morning Overview on MSN

Long-read RNA sequencing tool boosts rare-disease diagnoses missed by DNA tests

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...
Health on MSN

How is Prader–Willi syndrome diagnosed?

Medically reviewed by Daniel Combs, MD Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing ...