Thursday, 23 September 2021


Experts create world's largest browsable resource linking genetic variants to human health

09 July 2021 | News

This browser will enable scientists worldwide to explore and utilize the data for their respective areas of interest

image credit- shutterstock

image credit- shutterstock

Access to the world’s largest browsable resource linking rare protein-coding genetic variants to human health and disease was launched through a genetic exome sequence analysis collaboration between AbbVie, Biogen Inc. and Pfizer.

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 this browsable resource.

The collaboration between AbbVie, Biogen and Pfizer to make these data available highlights the importance of working together to advance science. The companies engaged 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.

In line with the collaboration members’ commitment to openness, these results can now be accessed freely via the new browser. This browser will enable scientists worldwide to explore and utilize 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 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.”

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