Genomic data in the All of Us Research Program

Genomic data in the All of Us Research Program

14 March 2024 | The All of Us Research Program Genomics Investigators*
The All of Us Research Program has released genomic data from 245,388 participants, including 77% from historically under-represented communities and 46% from under-represented racial and ethnic minorities. The data includes over 1 billion genetic variants, with more than 275 million previously unreported variants. The program has developed a secure cloud-based platform, the All of Us Researcher Workbench, allowing researchers to access individual-level data with a median time of 29 hours from registration. The data is publicly available for summary-level analysis, and individual-level data is accessible through the Workbench using a data passport model. The program aims to improve genomic medicine by providing diverse data for research and returning individual health-related DNA results to participants. The data includes comprehensive health records, electronic health records, and biospecimens, enabling studies on genetic-phenotype associations and disease mechanisms. The program has also developed standardized protocols for genome sequencing and data processing, ensuring clinical-grade quality and consistency across centers. The data has been used to validate genetic associations with diseases, demonstrating high replication rates across different ancestry groups. The program emphasizes equitable access to data, with a focus on diverse populations, and has implemented measures to protect participant privacy and ensure responsible research practices. The data is available for researchers to explore genetic and health-related associations, contributing to the advancement of precision medicine and genomic research.The All of Us Research Program has released genomic data from 245,388 participants, including 77% from historically under-represented communities and 46% from under-represented racial and ethnic minorities. The data includes over 1 billion genetic variants, with more than 275 million previously unreported variants. The program has developed a secure cloud-based platform, the All of Us Researcher Workbench, allowing researchers to access individual-level data with a median time of 29 hours from registration. The data is publicly available for summary-level analysis, and individual-level data is accessible through the Workbench using a data passport model. The program aims to improve genomic medicine by providing diverse data for research and returning individual health-related DNA results to participants. The data includes comprehensive health records, electronic health records, and biospecimens, enabling studies on genetic-phenotype associations and disease mechanisms. The program has also developed standardized protocols for genome sequencing and data processing, ensuring clinical-grade quality and consistency across centers. The data has been used to validate genetic associations with diseases, demonstrating high replication rates across different ancestry groups. The program emphasizes equitable access to data, with a focus on diverse populations, and has implemented measures to protect participant privacy and ensure responsible research practices. The data is available for researchers to explore genetic and health-related associations, contributing to the advancement of precision medicine and genomic research.
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