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[Preprint]. 2023 Jul 3:2023.06.29.23291992. [Version 1] doi: 10.1101/2023.06.29.23291992

Fig. 1: CH variants composed of at least one ultra-rare variant (MAC ≤ 10) can be robustly identified in large scale biobanks.

Fig. 1:

a) Trio SER depicted on y-axis as a function of MAC bin (x-axis) for phased variants with MAF ≤ 5%, stratified by phasing confidence score PP ≥ 0.5 or PP ≥ 0.9. b) Counts of samples harboring different classes of variation with at least two variants in UKBB. Each set of three bars depicts the number of individuals with at least one CH variant, homozygous variant, or multi-hit (cis) variant, respectively. Here, we define a CH pLoF+damaging missense variant as any combination of pLoF and/or damaging missense variation on opposite haplotypes. A qualifying carrier for each bar occurs according to the configuration displayed above the bars, and is grouped by variant consequence according to the color legend. c-d) Number of CH or homozygous carriers per gene. e) 1 - cumulative fraction (y-axis) of homozygous (dashed line) and CH carriers as a function of lowest MAF (x-axis) in bi-allelic variant pairs for which both variants phased at PP ≥ 0.9 (solid line), stratified by variant consequence according to the color key.