Uploaded May 2024 | Updated September 2026, 1 day ago

---

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.

Agenda: genome.gov/event-calendar/identifying-research-priorities-to-accelerate-genetic-diagnosis