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 ...

RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare ...