14 March 2024 | The All of Us Research Program Genomics Investigators*
The All of Us Research Program has released 245,388 clinical-grade genome sequences, focusing on diverse individuals to advance biomedical research and improve human health. This dataset is unique in its representation of historically underrepresented communities, with 77% of participants from underrepresented racial and ethnic minorities. The program identified over 1 billion genetic variants, including more than 275 million previously unreported variants, with over 3.9 million having coding consequences. By linking genomic data with electronic health records, the program evaluated 3,724 genetic variants associated with 117 diseases, achieving high replication rates across European and African ancestry participants. The summary-level data are publicly available, while individual-level data can be accessed through the All of Us Researcher Workbench using a data passport model, with a median time from registration to access of 29 hours. The program aims to advance genomic medicine by addressing historical underrepresentation in biomedical research and providing valuable genetic results to participants who opt-in. The All of Us infrastructure ensures clinical-grade data quality, harmonized methods, and secure access, facilitating equitable and reproducible research.The All of Us Research Program has released 245,388 clinical-grade genome sequences, focusing on diverse individuals to advance biomedical research and improve human health. This dataset is unique in its representation of historically underrepresented communities, with 77% of participants from underrepresented racial and ethnic minorities. The program identified over 1 billion genetic variants, including more than 275 million previously unreported variants, with over 3.9 million having coding consequences. By linking genomic data with electronic health records, the program evaluated 3,724 genetic variants associated with 117 diseases, achieving high replication rates across European and African ancestry participants. The summary-level data are publicly available, while individual-level data can be accessed through the All of Us Researcher Workbench using a data passport model, with a median time from registration to access of 29 hours. The program aims to advance genomic medicine by addressing historical underrepresentation in biomedical research and providing valuable genetic results to participants who opt-in. The All of Us infrastructure ensures clinical-grade data quality, harmonized methods, and secure access, facilitating equitable and reproducible research.