AbbVie, Biogen and Pfizer, under genetic exome sequence analysis collaboration, created the world’s largest browsable database that links rare protein-coding genetic variants to human health and disease.
The browser, managed by the Broad Institute of MIT and Harvard, provides access to analyses of whole exome sequencing data from 300,000 UK Biobank research participants.
UK Biobank is a large-scale biomedical database and research resource containing genetic, lifestyle and health information from half a million UK participants.
It includes blood samples, heart and brain scans and genetic data of the 500,000 volunteer participants and is globally available to approved researchers.
The genetic exome sequence analysis collaboration created the browsable resource by combining the genetic data from UK Biobank with detailed health information.
UK Biobank principal investigator and chief executive professor Sir Rory Collins said: “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.
“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.
AbbVie, Biogen and Pfizer worked together with the Broad Institute for data processing and to conduct single variant and gene-based association testing.
They used around 4,000 UK Biobank phenotypes to identify associations between distinct genes or genetic variants and disease.
With the new browsable resource, global scientists are enabled to explore and use the data for their respective areas of interest in accordance with UK Biobank’s terms of use.
The Broad Institute chief data officer Anthony Philippakis said: “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.”
