Big pharma collaborates on free resource linking genetic variants to human disease

12 July 2021

Hannah Balfour / European Pharmaceutical Review

The collaborative work has produced the largest browsable resource linking rare protein-coding genetic variants to human health and disease that will accelerate targeted drug development.

AbbVie, Biogen and Pfizer have collaborated to launch the world’s largest browsable resource linking rare protein-coding genetic variants to human health and disease, which can now be accessed free.

The browser, which will be managed by the Broad Institute of MIT and Harvard, gives scientists access to results from analyses of whole exome sequencing data from 300,000 UK Biobank research participants. The genetic data has also been paired with detailed health information.

To make the data available, AbbVie, Biogen and Pfizer collaborated 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. The companies stated that the browser will enable scientists worldwide to explore and utilise the data for their respective areas of interest in accordance with UK Biobank’s terms of use.

“Human genetics has been foundational to understanding disease aetiologies and is a first step to finding solutions to some of humanity’s most devastating diseases,” commented 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.”

Anthony Philippakis, Chief Data Officer at the Broad Institute, added: “We are proud to be involved in this exciting project and believe the collected information will yield important insights for the global scientific community… 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 utilised and hopefully accelerate the path from genetic discoveries towards novel therapeutics.”

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