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UK Biobank generates “largest open access resource of exome data”

Around 50,000 de-identifed genetic profiles available for research


The efforts of a project to sequence certain parts of a genome from 50,000 UK Biobank participants have today come to fruition, as new genetic data becomes available to the global health research community.

Generated at the Regeneron Genetics Center, the data was collected as part of a large-scale collaboration between UK Biobank, GSK and Regeneron and according to the latter, it has led to the “largest open access resource of exome sequence data linked to health records”.

The data is only focused on around 2% of a human’s genome, known as the exome, but it’s in this part where the protein-coding genes are held.

According to scientists, these genes carry the most potential for discovering genetic variants that could inform the discovery and development of new medicines.

GSK and Regeneron will get its hands on the first wave of de-identified data due to a brief exclusive research period then it can be accessed via the UK Biobank resource globally.

Both companies have a vested interest in the area. GSK has committed a £40m investment to similar genetic research initiatives to more accurately streamline medicines development while Regeneron, and its specialised genetics research arm Regeneron Genetics Center, will lead a group of pharma companies to complete the exome sequencing of the remaining 450,000 UK Biobank participants by 2020.

“This is just the beginning,” said Aris Baras (pictured below), senior vice president and head of the Regeneron Genetics Center.


“There is so much actionable information in this resource that can be utilised by scientific minds around the globe. We are hard at work mining the data for novel findings that will accelerate science, innovative new medicines and improved patient care, and are excited to have others join us in this important quest.”

More data is due to be released over the next two years, but Regeneron and GSK have already released some key findings from the data.

These include new links with specific genes to a higher risk of certain diseases, such as the PIEZO1 gene and varicose veins, the MEPE gene and bone mineral density and osteoporosis and the IQGAP2 and GMPR genes associated with blood cell traits.

The data has also allowed the UK Biobank to update a range of other health information on over 500,000 participants, including updates on hospital, cancer and death data.

It has also better specified new disease-related algorithms in chronic obstructive pulmonary disease, kidney disease, dementia, Parkinson’s disease, heart attack and stroke.

Tony Wood, SVP, Medicinal Science and Technology, GSK, said: “Genetics is playing an increasingly important role in research, and by generating and now integrating these exome data, the UK Biobank has some of the richest health and genetics data available for use by the broader scientific community to enhance their understanding and research effort. We expect this will ultimately lead to more scientific breakthroughs that can improve health.”

The participants will next be offered the chance to get their whole genome sequenced, which will be funded by the UK Research and Innovation as part of the Industrial Strategy Challenge Fund.

The UK has been making moves to position itself as a leader in the field of genomics of late, and recently unveiled a National Genomic Healthcare strategy that aims to help further integrate genomics into mainstream NHS treatment.

Article by
Gemma Jones

11th March 2019

From: Research



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