Fig. 3.

HLAProfiler correctly identifies the disease-associated B*27 allele incorrectly called by the gold standard. a Sequence coverage of RNA-seq data from NA11840 when aligned to B*27:03 (gold standard call), B*27:05:02 (identified by RNA-seq algorithms), and B*27:05:03 (full sequence predicted by HLAProfiler with allele refinement, and allele confirmed by TruSight HLA). Exon boundaries relative to the allele and differences between the alleles responsible for dips in coverage are also noted. b HLAProfiler generated comparison statistics of the three alleles, indicating the proportion of observed reads accounted for by the profile, the proportion of the profile accounted for by observed reads, and the correlation between the observed reads and the profile