Pfizer, AbbVie, Biogen Launch Resource for Genetic Variants

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

The genetic exome sequence collaboration between the companies, managed by MIT and Harvard, provides access to results from analyses of whole-exome sequencing data from 300,000 UK Biobank research participants. 

The collaboration paired genetic data with detailed health information to create the resource, highlighting the importance of working together to advance science, a Pfizer spokesperson 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,” Sir Rory Collins, professor, principal investigator and chief executive of UK Biobank, said in the announcement.

“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,” Collins continued. 

As part of the collaboration, MIT provided its data processing technology and helped to conduct single variant and gene-based associated testing with about 4,000 UK Biobank phenotypes. The testing identifies connections between distinct genes or genetic variants and disease.

Test results can now be accessed freely through the new browser, allowing scientists globally to utilize the data for their respective areas of interest, following UK Biobank’s terms of use. 

The UK Biobank whole-exome sequencing data were generated as part of the UK Biobank Exome Sequencing Consortium, which includes various industry partners and generates the source data for an improved understanding of human biology and disease. 

 “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,” said Anthony Philippakis, chief data officer at MIT.