Finding Answers for Undiagnosed Patients with Rare Genetic Diseases

Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, discusses his organization’s collaboration with Pacific Biosciences to use long-read whole genome sequencing to diagnose patients with rare diseases, how the technology differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.