Performance of transfusion module on UKBB_v2.2 array. (A) Genotype reproducibility for 17 070 biallelic probe-variant pairs included in the UKBB_v2.2 array design. Reproducibility expressed as percentage of concordant genotype comparisons, and gnomAD MAF for each variant are displayed on the x- and y-axes, respectively. Blue hexagons and red dots on the central scatterplot represent the density of probes with reproducibility ≥99% and individual probes with <99% concordance, respectively. Marginal histograms show probe counts on a log scale. (B) Correlation of the MAF in EUR study participants vs (non-Finnish) EUR participants from the gnomAD database for each probe-variant pair. Probes with ≥99% and <99% genotype reproducibility are shown in blue and red, respectively. Contour lines represent boundaries of statistical significance with corresponding P values calculated using the χ2 test. (C) Concordance between clinical and array-generated HEA types for the unified samples genotyped in triplicate (n = 3791). Bar plots showing the number of comparisons (y-axis) per HEA type (x-axis) with concordant results obtained by all 3 test sites in green and discordant results by all test sites in blue, Sanquin only in orange, NYBC only in red, and NHSBT only in purple. Ascending and descending bars represent the number of comparisons to positive clinical or negative clinical antigen types, respectively. Bar plots show the number of comparisons on a log scale. EUR, European; MAF, minor allele frequency; NFE, non-Finnish European.
