Browsable Resource Linking Rare Protein-Coding Genetic Variants to Human Health and Disease

Access to the world’s largest browsable resource linking rare protein-coding genetic variants to human health and disease has launched through a genetic exome sequence analysis collaboration among three biopharmaceutical companies: AbbVie, Biogen, and Pfizer.

Photo: Anthony Philippakis, chief data officer at the Broad Institute

The browser, managed by the Broad Institute of MIT and Harvard, gives access to results from analyses of whole exome sequencing data from 300,000 UK Biobank research participants. These genetic data have been paired with detailed health information to create this browsable resource.

“We are proud to be involved in this exciting project and believe the collected information will yield important insights for the global scientific community,” said Anthony Philippakis, chief data officer at the Broad Institute. “By combining the expertise of the healthcare industry and the non-profit research community, we can carefully assess how biomedical data at this unprecedented scale is best utilized and hopefully accelerate the path from genetic discoveries towards novel therapeutics.”

The biopharma companies engaged with the Broad Institute for data processing and to conduct single variant and gene-based association testing with nearly 4,000 UK Biobank phenotypes to identify associations between distinct genes or genetic variants and disease. In line with the collaboration members’ commitment to openness, these results can now be accessed freely via the new browser. This browser will enable scientists worldwide to explore and utilize the data for their respective areas of interest in accordance with U.K. Biobank’s terms of use.

“Human genetics has been foundational to understanding disease etiologies and is a first step to finding solutions to some of humanity’s most devastating diseases,” said Professor Sir Rory Collins, UK Biobank principal investigator and chief executive. “Our hope is that this information will allow researchers to better understand the human genome and identify therapeutic strategies that can specifically target the underlying causes of disease.”

The UK Biobank whole exome sequencing data has been generated as part of the UK Biobank Exome Sequencing Consortium, formed in 2018, which, in addition to AbbVie, Biogen and Pfizer, includes additional industry partners, supporting a trend across the industry to collaborate in a precompetitive manner for generating the source data for an improved understanding of human biology and disease.

UK Biobank is a large-scale biomedical database and research resource containing genetic, lifestyle and health information from half a million UK participants. It’s database, which includes blood samples, heart and brain scans, and genetic data of the 500,000 volunteer participants, is globally accessible to approved researchers who are undertaking health-related research that’s in the public interest.

Author: Rare Daily Staff