All of Us

A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

A meta-analysis of genome-wide association studies of type 2 diabetes (T2D) identifies more than 600 T2D-associated loci; integrating physiological trait and single-cell chromatin accessibility data at these loci sheds light on heterogeneity within the T2D phenotype.

A new study from the eMERGE consortium provides insights on the development of a pipeline for the generation and reporting of polygenic risk scores for ten diseases to diverse populations in a clinical setting.

A comparison of the frequency of pathogenic mutations in 73 genes in the All of Us cohort highlights the differences in pathogenic variation attributed to ancestry.

The emergence of large-scale genomics projects has led to genetic studies across cohorts. Here, the authors conduct genome-wide association studies meta-analyzing in trusted research environments or pooling together and find similar, but not identical results.

The All of Us Research Program has prioritized the enrollment of people from backgrounds that are historically under-represented in medical research to bring precision medicine to the full diversity of the US population and to improve health outcomes for all.

The largest genome-wide association study for type 2 diabetes so far, which included several ancestry groups, led to the identification of eight clusters of genetic risk variants. The clusters capture different biological pathways that contribute to the disease, and some clusters are associated with vascular complications.

This study seeks to highlight the scientific, regulatory and operational issues around the use of polygenic risk scores in a diverse population. The work presented here provides a framework for laboratories, providers and researchers wishing to advance the field of preventative medicine.

A publication in Nature reports the data release of around 245,000 clinical-grade whole-genome sequences as part of the NIH’s All of Us Research Programme. Several companion papers highlight the value of better capturing global genomic diversity.