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|
|Core exome V1.0 & V1.1 chip||Illumina||3552||3520||2719|
|MS exome chip||Illumina||1496||1493||1129|
|Whole Exome Sequencing (WES)||Sanger/Illumina||26428||25749||25063|
- Participants may have been genotyped/sequenced on more than one technology!
- This table excludes ~7,000 recallable participants recruited to the previous NIHR BioResource – Rare Diseases, who have Whole Genome Sequencing available;
- 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;
- 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.