AstraZeneca analysed rare variant contribution to human disease

AstraZeneca scientists, based in Cambridge UK, have analysed over 18,000 phenotypes in combination with whole exome sequencing data from nearly 300,000 UK Biobank research participants.

The findings have been made available to the global scientific community and highlight novel and important contributions of rare genetic variants to some of the most common diseases.

The findings are already yielding promising therapeutic targets that we can take forward into experimental target validation. The research also suggests that clinically relevant gene-phenotype relationships were enriched seven-fold for targets of FDA-approved medicines.
“Accelerating the identification of human-validated gene targets in this way will only improve our ability to test clear biological hypotheses and grow our confidence in the clinical success of the next generation of medicines. This is part of AstraZeneca’s wider ambition to harness the full power of genomics by analysing up to 2 million genomes by 2026.”
Slavé Petrovski, VP and Head of Centre for Genomics Research, AstraZeneca R&D
This research is another great example where the UK continues to be at the forefront of biomedical research and life sciences.
As part of the research, 998 terabytes of raw exome sequencing was analysed, with 123 billion statistical tests performed, with all the work taking place in Cambridge, UK.
This research was conducted as part of the UK Biobank Exome Sequencing Consortium (UKB-ESC). The UK Biobank sits at the heart of the UK Life Sciences sector and offers a global health resource with unparalleled research opportunities aimed at improving human health. Today, large private-public consortia such as the UKB-ESC are advancing human genetics research and drug discovery by generating unique, accessible datasets and resources that can be used by the global research community.
The UK Biobank will make available the 300,000 exome dataset to the scientific community before the end of the month.


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