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 |