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AbbVie, Biogen and Pfizer collaboration creates new resource for genetic exome sequence analysis

Companies have created 'world’s largest' resource for genetic exome sequence analysis

AbbVie, Biogen and Pfizer have formed a collaboration in a bid to launch the world’s largest browsable resource for genetic exome sequencing analysis.

The browser, managed by the Broad Institute of MIT and Harvard in the US, provides access to results from analyses of whole exome sequencing data from 300,000 UK Biobank research participants.

The data also contains detailed health information to link rare protein-coding genetic variants to human health and disease.

Working with the Broad Institute, the three companies completed data processing and conducted single variant and gene-based association testing with nearly 4,000 UK Biobank phenotypes. As a result, they were able to identify associations between distinct genes or genetic variants and diseases.

The results of this engagement with the Broad Institute can now be freely accessed via the browser, enabling scientists to explore and use the data in research – in accordance with the UK 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,” he added.

"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,” said Anthony Philippakis, chief data officer at the Broad Institute.

The UK Biobank is a national and international health resource that recruited 500,000 people between 40-69 years of age between 2006-2010 from across the country.

Participants underwent a number of measures, including providing blood, urine and saliva samples for future analysis, and detailed information about themselves and also agreed to have their health monitored. The aim is to build a resource which will help researchers discover the causes of particular diseases.

The health resource’s whole exome sequencing data was generated as part of the UK Biobank Exome Sequencing Consortium that was formed in 2018.

Article by
Lucy Parsons

9th July 2021

From: Research

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