Children’s Hospital of Philadelphia researchers develop new RNA sequencing platform for diagnosing rare diseases (opens in new tab)

The technology, called STRIPE, enables cost-effective, scalable analysis of full-length RNA molecules to reveal disease-causing genetic variants and provide molecular diagnoses for previously undiagnosed patients 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 diseases. ...