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Fig. 2 | Genome Medicine

Fig. 2

From: HLAProfiler utilizes k-mer profiles to improve HLA calling accuracy for rare and common alleles in RNA-seq data

Fig. 2

HLA calling accuracy. a The accuracy of HLA calling was evaluated for six algorithms. Datasets were simulated using GeT-RM alleles from 109 samples (left panels) and rare alleles for 100 samples (right panels) at two-field precision (upper panels) and exact precision (lower panels) when available. b Concordance of HLA calling in 358 lymphoblastoid cell lines compared with gold standard HLA allele calls generated by Sanger sequencing (left panel). Sequences were downsampled to five million reads, HLA alleles were called, and concordance was recalculated (middle panel). Discrepancies between HLAProfiler, OptiType, and Sanger sequencing were resolved using TruSight HLA for 38 samples, the gold standard calls were updated with the resolved genotype, and concordance was recalculated for all methods with the addition of the original Sanger sequencing calls (right panel)

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Genome Medicine

ISSN: 1756-994X

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