Diagnosing the undiagnosed with long-read genome data
In this talk, Wendy Chung shares how her team at Boston Children's Hospital are using Oxford Nanopore sequencing to help uncover answers in unsolved, short-read negative rare disease cases.
See our blog article for more on how Dr Chung and others are demonstrating the potential of nanopore sequencing to reshape rare disease diagnosis in the future.
Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School.
Please note: This is independent, investigator-led research using Oxford Nanopore technology. Oxford Nanopore products are for research use only, and not for use in diagnostic procedures.
