The newly announced collaborators will each commit USD10 m to enable a dramatic acceleration of sequencing timelines, and additional companies are considering joining the consortium. Consortium members, who have committed to make all significant research findings public, will have a limited period of exclusive access to the sequencing data, before the data will be made available to other health researchers by UK Biobank.
Regeneron will conduct the sequencing effort at its Genetics Center facility. Sequencing data will be paired with detailed, de-identified medical and health records within the UK Biobank resource, including enhanced measures such as brain, heart and body imaging, to create an unparalleled resource for linking human genetic variations to human biology and disease.
Regeneron expects to complete the exome sequencing of all 500,000 participants by the end of 2019, with all data made broadly available by UK Biobank to researchers by the end of 2020.
The UK Biobank exome sequencing project builds on previously completed genotyping that was conducted on the 500,000 samples and released publicly in mid-2017. Genotyping measures specific "letters" in DNA at select locations across the genome.
Exome sequencing records every letter in the DNA of the exome, the 1-2% (30 to 40 m letters) of the genome that encodes all known proteins and that is believed to have the most relevance for therapeutic development and understanding of inherited disease.
UK Biobank's 500,000 participants have provided information about their health, well-being and lifestyle, as well as blood and other biological samples for long-term storage and analysis, and have agreed to have their health followed through medical records for many years.
Scientists from around the world are able to use anonymized data from the resource for research intended to improve the prevention and treatment of a wide range of common disorders.
The Regeneron Genetics Center LLC (RGC), a wholly-owned subsidiary of Regeneron Pharmaceuticals, is a fully integrated genomics program that spans early gene and target discovery, functional genomics, and genetics-guided drug development. The primary goal of the RGC is to improve patient outcomes by identifying new drug targets, genetically-validated clinical indications, and genomic markers for pharmacogenetic applications.
The RGC utilizes various sequencing and analytical approaches and has established nearly 60 collaborations with leading human genetics researchers and biobanks around the world. It has sequenced samples from more than 250,000 appropriately-consented individuals to date.
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