The Broad Institute’s All of Us (AoU) Genome Center and All of Us Data and Research Center have led multiple aspects of variant discovery and data releases for this national biobank initiative. In June 2024, the laboratory of institute member and All of Us Co-I Mike Talkowski, including Emma Pierce-Hoffman, Mark Walker, Harrison Brand, Chris Whelan, Xuefang Zhao, Kirtana Veeraraghavan, Shadi Zaheri, and Nehir Kurtas have released a new structural variant discovery catalog from short-read genome sequencing in nearly 100,000 individuals. This resource includes over 1.5 million structural variants and uses identical methods to those applied to and released in gnomAD v4. The ability to capture and analyze structural information from genome sequencing has catalyzed new discoveries in population genetics, genome biology, disease association, and variant interpretation, and these analyses are now openly accessible in All of Us using the Researcher Workbench. Visit the AoU user support hub to get started.
On June 17, 2024, the All of Us Research Program released the structural variant (SV) genomic data representing 97,940 participants in the Researcher Workbench for use by registered researchers with Controlled Tier access. There are over 1.5 million SV sites in the dataset. With this release of SV data, we increased the percentage of srWGS samples that have SV data to 40%. The data complements the existing genomic data available on the Workbench, where researchers can analyze 312,945 array samples, 245,394 srWGS SNP and Indel samples, and 1,027 long-read whole genome sequencing (lrWGS) samples. The genomic data is paired with other health and survey data available on the Workbench. Quality control processes performed independently and across samples indicate that these data are ready for general analysis.