AbbVie, Biogen, and Pfizer have joined forces to collaborate on the creation of what is said to be the largest-ever browsable resource that links rare protein-coding genetic variants to health and disease. Managed by the Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard University, the resource provides researchers with access to results from analyses of whole-exome sequencing data from 300,000 UK Biobank research participants; the data have been matched with detailed health information to create the resource.
The trio of pharma 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. The goal was to identify associations between distinct genes or genetic variants and disease.
In accordance with the collaborators’ aim to create an open resource, the results can be accessed freely via the new browser. According to the partners, the browser will enable researchers to explore and utilize the data for their respective areas of focus, in accordance with UK Biobank’s terms of use.
Rory Collins, UK Biobank principal investigator and chief executive, said the collaboration will further understanding of human health and solutions to pervasive diseases.
“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,” Collins said. “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.”
Anthony Philippakis, chief data officer at the Broad Institute, said the collaboration and resulting resource could lead to significant progress in the development of treatments.
“We are proud to be involved in this exciting project and believe the collected information will yield important insights for the global scientific community,” Philippakis said. “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 UK Biobank whole-exome sequencing data has been generated as part of the UK Biobank Exome Sequencing Consortium, formed in 2018. In addition to AbbVie, Biogen, and Pfizer, the consortium includes additional industry partners, supporting a growing trend across the life sciences to collaborate on generating the source data for an improved understanding of human biology and disease; the browser can be accessed via https://genebass.org.
The collaboration is one of several recent partnerships pharma firms have undertaken with other entities. Last month, Sanofi joined up with CytoReason on a project center around artificial intelligence (AI) based research of asthma patients. Last year, the Bill and Melinda Gates Foundation corralled a group of pharma firms (including Gilead, GlaxoSmithKline, BD, Merck, Novartis, and others) to put their heads together and address potential COVID-19 solutions.
