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. Author manuscript; available in PMC: 2020 Nov 2.
Published in final edited form as: Nat Biotechnol. 2019 Aug 2;37(8):907–915. doi: 10.1038/s41587-019-0201-4

Table 1.

Concordance between HISAT-genotype and Omixon on HLA-typing of 917 genomes from the CAAPA (Consortium on Asthma among African-ancestry Populations in the Americas) collection. Concordance is calculated as the total number of alleles matched between both programs divided by the total number of alleles. For example, for the HLA-A gene, HISAT-genotype and Omixon agree on the allele group (the first number of the HLA type) for both alleles for 913 genomes, agree on one allele for 4 genomes, and agree on no alleles for 0 genomes. Thus, the concordance for HLA-A is 0.998 = (913 × 2 + 4) / (917 × 2). HISAT-genotype reports HLA types with all four fields specified (e.g., A*24:02:01:01), while Omixon reports HLA types with either two numbers (e.g. A*69:01) or three numbers (A*24:02:01); therefore matches were evaluated using only the first two numbers.

First number (e.g., A*01) First and second numbers (e.g., A*01:01)
Both
alleles
matched
One
allele
matched
No
allele
matched
Concordance Both
alleles
matched
One
allele
matched
No
allele
matched
Concordance
HLA-A 913 4 0 0.998 883 33 1 0.981
HLA-B 911 6 0 0.997 877 40 0 0.978
HLA-C 915 2 0 0.999 880 34 3 0.978
HLA-DQA1 884 33 0 0.982 868 45 4 0.971
HLA-DQB1 917 0 0 1 753 164 0 0.911
HLA-DRB1 861 56 0 0.97 698 205 14 0.873