Fig. 2

Performance of the DRAGEN LPA caller across the 1KGP. A Distribution of LPA KIV-2 total copy numbers among samples from 1KGP. B Histogram of absolute value of allele length difference between allele1 and allele2 among samples from 1KGP. The DRAGEN LPA caller could haplotype-resolve about 50% of the samples. C For 60 trios where both offspring and parent KIV-2 allele lengths are reported, an allele combination is chosen which minimizes the total difference between each of the two offspring alleles and one from each parent as the most likely allele origin. Each pair, consisting of one offspring allele and one associated parent allele, is shown for a total of 120 allele pairs. Dashed lines indicate error margins of 5% from expected. D For 153 duos where both offspring KIV-2 allele lengths and those from one parent are reported, a most likely allele combination for one offspring allele and one parental allele is chosen as in C. Dashed lines indicate error margins of 5% from expected. E The distribution of allele1 (longest allele in sample) copy numbers among approximately 50% of the 1KGP samples. F The distribution of allele2 copy numbers (shortest allele in sample)