Genetic data from SNP chips/arrays and Whole Exome Sequencing

The NIHR BioResource holds genetic data on many of its participants that may be used for data-only research or as a basis of selection to future experimental medicine studies.

To give a sense of the scale of the current holding, this is a snapshot from October 2022:

Chip/ Array/ Sequence-type Vendor Number of samples typed Number of unique participants Number of recallable participants
Ominiexpress chip Illumina 1096 1078 730
Immuno chip Illumina 3942 3851 2655
Exome chip Illumina 2686 2684 1973
Core exome V1.0 & V1.1 chip Illumina 3552 3520 2719
MS exome chip Illumina 1496 1493 1129
Affymetrix V1.0 Thermofisher 57137 31502 22055
Affymetrix V2.1 Thermofisher 62017 61791 59873
Whole Exome Sequencing (WES) Sanger/Illumina 26428 25749 25063

Notes:

  1. Participants may have been genotyped/sequenced on more than one technology!
  2. This table excludes ~7,000 recallable participants recruited to the previous NIHR BioResource – Rare Diseases, who have Whole Genome Sequencing available;
  3. Not all participants are available at all times – we may only invite each person to 4 studies per year – and not all will want to join any given study;
  4. However, the number of recallable participants is increasing both as we commission more genotyping – with the revised version of the UK Biobank Axiom (v2.1) chip – and as more participants’ details are added to the central recall database.