Validation of genome-wide and targeted genotyping arrays to enable the ascertainment of blood groups of man to a clinical standard
Professor Willem H Ouwehand
Institution or company
University of Cambridge
The aim of this study is to clinically validate targeted and genome-wide typing arrays (e.g. the Affymetrix Axiom UK Biobank array) to ascertain the aforementioned 1,071 DNA variants encoding blood groups to clinical standard. An analysis of the results of the Axiom array in the UK Biobank and INTERVAL samples has shown that less than 2/3 of the DNA variants have call plots which allow the unequivocal assignment of genotype. We have worked with Affymetrix for the past 6 months to (i) review the results obtained with the UK Biobank and INTERVAL samples; (ii) complete the curation of the variants; (iii) bin the variants in five categorise based on clinical importance; (iv) develop a study knowledge database for use by all study participants; (v) achieve improvements in probe design. These efforts have led to the design of next version of Affymetrix genotyping array.
This study will therefore:
- Link existing NHSBT, UK BioBank, NIHR BioResource and Cambridge BioResource data to validate the performance of the UK BioBank Axiom arrays in determining blood groups;
- Validate an enhanced Axiom array which has been optimized for determining blood groups using existing DNA;
- Recall volunteers to investigate discrepancies between known blood group phenotype and genotype;
- Provide data to the NIHR BioResource on levels of sample handling errors;
- Support the translation of genomic testing of blood donors into routine practice.