The health and genetics data available for use could lead to more scientific breakthroughs that can improve health outcomes.
Regeneron and U.K. Biobank today announced that exome sequence data of 50,000 U.K. Biobank participants is now available to health researchers to aid in therapeutic discovery and enhance the understanding of human biology.
The data were generated at the Regeneron Genetics Center through a collaboration between U.K. Biobank, Regeneron and GlaxoSmithKline and are linked to detailed deidentified health records, imaging and other health-related data.
U.K. Biobank is a resource with more than 502,000 individuals and combines extensive phenotypic and genotypic data with streamlined access for researchers around the world.
The first portion of large-scale exome sequence data for 50,000 participants revealed approximately 4 million coding variants.
Key findings included novel loss of function associations with large effects on disease risk. The team also explored population-based genetic risk for diseases, such as BRCA1- and BRCA2-associated cancers.
Exome sequencing allows researchers to directly assess protein-altering variants, which provides a clearer path towards more mechanistic and therapeutic insights, along with potential utility in therapeutic target discovery and validation and in precision medicine.
According to the announcement, Regeneron has advanced multiple new targets and development programs based on its genetics discoveries and GlaxoSmithKline is increasingly incorporating the advances in genetic and genomics into its drug research programs.
Regeneron is leading a consortium of biopharma companies to complete exome sequencing of the remaining 450,000 U.K. Biobank participants by 2020.
“There is so much actionable information in this resource that can be utilized by scientific minds around the globe," said Aris Baras, M.D., senior vice president and head of the RGC. "We are hard at work mining the data for novel findings that will accelerate science, innovative new medicines and improved patient care, and we are excited to have others join our quest.”
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