At ACMG 2025, Dr. Moez Dawood announced a groundbreaking initiative: the global democratization of deidentified allele count and frequency data from the first ~250,000 short-read Whole Genome Sequencing (WGS) samples from the All of Us Research Program via an OpenCRAVAT annotator. OpenCRAVAT is proud to incorporate this invaluable resource. The All of Us Research Program is a landmark effort to build one of history’s largest and most diverse health databases. By making this extensive WGS data available, researchers and clinicians gain unprecedented access to population-specific variant frequencies, significantly enhancing the accuracy and reliability of genetic interpretations.
Moez Dawood highlighted the importance of this dataset in his talk, “GREGoR: Accelerating Genomics for Rare Diseases,” during Platform Session 8: Genomic Medicine and Education at ACMG 2025. This presentation underscored the potential of this data to accelerate research and improve clinical care, particularly for rare diseases. We collaborated with Moez to develop an All of Us Annotator.
OpenCRAVAT is excited to announce the integration of this All of Us dataset, providing our users access to this critical information within our powerful annotation platform. By leveraging this data, OpenCRAVAT users can:
- Enhance variant prioritization by incorporating population-specific allele frequencies.
- Improve the interpretation of rare variants by comparing them against a large, diverse cohort.
- Streamline clinical workflows with comprehensive and accurate variant annotation.
Watch for the upcoming preprint, which will provide further details about this exciting project.
