On February 3, 2025, the All of Us Research Program released the genomic data of 447,278 array samples, 414,830 srWGS samples with SNP & Indels, 97,061 srWGS samples with SV calls, and 2,800 lrWGS samples in the Researcher Workbench (RW) for use by researchers registered for Controlled Tier access. As described previously, this high-quality genetic data along with comprehensive health data will enable health research and catalog the genetic variation that leads to human health and disease. For a snapshot of the data, see Table 1.
Dataset | Number of Participants | Number of Variants | Highlights |
Array | 447,278 | More than 1.8 million |
|
Short-read WGS SNP and Indel | 414,830 | More than 1.2 billion |
|
Short-read WGS structural variants (SVs) | 97,061 | Nearly 1.5 million | |
Long-read WGS | 2,800 | 11 cohorts with SNPs, Indels, and structural variants |
|
In addition to variant calls, raw data (IDAT files for array data, CRAM files for srWGS data, BAM files for lrWGS data) and auxiliary files (variant annotations, pharmacogenomics, genetic ancestry categories, genetic ancestry admixture estimates, and relatedness/kinship scores) are available in the RW through Controlled Tier access. Quality control processes, performed both independently and across samples, indicate that these data are ready for general analysis. We suggest researchers, at a minimum, read the 'Known Issues' and 'FAQ; sections of the All of Us Genomics QC report before using the data.
Comments
0 comments
Article is closed for comments.