Global genetic exome sequence analysis collaboration announced

pharmafile | July 9, 2021 | News story | Medical Communications  

AbbVie, Pfizer, and Biogen have announced the launch of the world’s largest browsable resource linking rare protein-coding genetic variants to human health and disease.

The resource was launch through a genetic exome sequence analysis collaboration between the companies and will be managed by the Broad Institute of MIT and Harvard.

The browser 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 a browsable resource.

The collaboration between AbbVie, Biogen, and Pfizer engaged with the Broad Institute for data processing to conduct single variant and gene-based association testing with nearly 4,000 UK Biobank phenotypes, in order to identify associations between distinct genes or genetic variants and disease.

These results can now be accessed for free via the new browser, enabling scientists worldwide to utilize the data for their respective areas of interest.

Professor Sir Rory Collins, UK Biobank Principal Investigator and Chief Executive, 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, which, in addition to AbbVie, Biogen and Pfizer, includes additional industry partners to collaborate in a precompetitive manner for generating the source data for an improved understanding of human biology and disease.

UK Biobank’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.

Anthony Philippakis, Chief Data Officer at the Broad Institute, 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 utilised and hopefully accelerate the path from genetic discoveries towards novel therapeutics.”

Kat Jenkins


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