Challenges in the Analysis of WGS Datasets for the Diagnosis of Rare Diseases in Pediatric Patients

In this presentation at the 2023 Mastermind User Group in Washington, D.C., Director of Molecular Diagnostics at Ann and Robert H. Lurie Children’s Hospital of Chicago, Kai Lee Yap, PhD, FACMG, discusses the challenges in the analysis of whole-genome sequencing (WGS) datasets for the diagnosis of rare diseases in pediatric patients. Whole-genome sequencing is a powerful tool for diagnosing rare diseases in pediatric patients. However, a majority of patients remain undiagnosed after testing due to significant gaps in our current analytical approaches. The factors contributing to these gaps will be discussed in the presentation.

Try Mastermind for yourself by creating your account: https://bit.ly/3sF4PQB. Start with a free trial of Professional Edition. No payment info required.