Full-resolution HLA and KIR gene annotations for human genome assemblies

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Figure 6.
Figure 6.

T1K evaluation for HLA/KIR genes. (A) Sensitivity of T1K on HPRC samples. Immuannot HPRC annotation is taken as the ground truth. An Immuannot allele and a T1K allele are “matched” if both alleles correspond to the same protein sequence. Synonymous or noncoding differences are ignored. An Immuannot allele and a T1K allele are “consistent” if one allele leads to a novel protein sequence absent from the IPD databases and the two alleles come from the same allele group (in case of HLA genes) or are the same gene (in case of KIR genes). A “T1K FN” is an allele called by Immuannot that is not matched by or consistent with a T1K allele. The copy number of homozygous calls is considered in this comparison: If Immuannot annotates a gene to have two copies but T1K only finds one, this is also considered a FN call. (B) Precision of T1K. A “T1K FP” is an allele called by T1K that is not matched by or consistent with an Immuannot allele.

This Article

  1. Genome Res. 34: 1931-1941

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