Whole exome sequencing data

#Comms UKB Community Team
#Comms UKB Community Team
  • Updated

Whole-exome sequencing measures the regions of the genome (about 2%) that are involved in coding for proteins and is particularly suitable for identifying disease-causing and/or rare genetic variants. 

A vanguard exome sequencing project on the first 50,000 participants was performed by Regeneron and GlaxoSmithKline. A further consortium (comprising Regeneron, AbbVie, Alnylam Pharmaceuticals, AstraZeneca, Biogen, Pfizer, Takeda and Bristol-Myers Squibb) have completed the exome sequencing project and data is available to researchers for 470,000 participants.

Useful links

Data Showcase

UK Biobank genetic files data formats 

Exome sequencing FAQs


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