Identifying Research Priorities to Accelerate Genetic Diagnosis
Event Details
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are commonly used methods for determining causal variants underlying Mendelian disease. Although WES and WGS have proven to be transformational approaches, much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) is interested in obtaining feedback from the scientific community to better understand the major challenges, gaps and opportunities for developing solutions to this complex issue.
to
Hybrid: Virtual and In-Person
Video Recordings
YouTube Playlist: Identifying Research Priorities to Accelerate Genetic Diagnosis
Contacts
Lisa H. Chadwick, Ph.D.
- Program Director
- Division of Genome Sciences
Heather A. Colley, M.S.
- Program Director
- Division of Genomic Medicine
Sara Currin, B.S.
- Scientific Program Analyst
- Division of Genome Sciences
Chris Wellington, B.S.
- Program Director, Computational Genomics and Data Science
- Office of Genomic Data Science
Last updated: May 3, 2024