Whole Genome Sequences from a Diverse Human Population Now Available Through the All of Us Research Hub

In March 2022, the All of Us Research Program announced the release of its initial genomic dataset: nearly 100,000 whole genome sequences and 165,000 genotyping arrays, with nearly 50% coming from people who self-identify with a racial or ethnic minority group.

In an announcement about the release of the genomic data, Kelsey Mayo, Ph.D., scientific portfolio and product manager at the Vanderbilt University Medical Center Data and Research Center, states:

“What’s going to grab researchers’ attention is the diversity of the cohort. Half of our cohort is non-European. More than 90% of participants in genome-wide association studies have been of European descent. There’s just a real absence of genetic data from African, Asian, and Latino people. All of Us participants are providing this important data that’s been missing in health research. So we are going to have that new genetic information that’s been missing.”

Plans for forthcoming releases include data from participants who self-identify as American Indian or Alaska Native, with resources to provide important context for researchers.

In addition to the genomic data, the All of Us datasets include:

  • Electronic health records (with direct identifiers removed)
  • Biosamples (blood, urine, and saliva)
  • Mobile health data (from wearable devices that may track biometric data like heart rate and blood pressure)
  • Physical measurements (height, weight, BMI, waist circumference, hip circumference, blood pressure, heart rate, pregnancy status, and wheelchair use)
  • Surveys (there are three core surveys: basic demographics, lifestyle/substance use, and overall health; additional surveys on health care access and utilization, personal and family medical history, and the impact of COVID-19 are available)

The All of Us Research Hub has a tiered-data access model with three data tiers: public, registered, and controlled. The University of Pittsburgh has signed a data use and registration agreement with the All of Us Research Program, allowing Pitt researchers to apply for registered and controlled tier access. Required steps are outlined on the “Register to be an All of Us Researcher” webpage. There is no cost to access the Researcher Workbench, but computation costs for analyses may be incurred through the Google Cloud Platform.

For more information about the release of the genomic data, see the announcement from the National Institutes of Health.

~Melissa Ratajeski