Whole exome sequencing data

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. This was completed using participant blood samples collected at the point of assessment.

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.