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Fig. 3 | Genome Biology

Fig. 3

From: Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples

Fig. 3

A Summary of RefSeq genes/transcripts mapping on HCC1395BL_v1.0 and GRCh38 with cutoffs 95% identity + 50% coverage versus 95% identity + 95% coverage. The bottom table provides a summary of the mapping using 95% identity + 50% coverage as cutoff. B HLA coding genes on Scaffold_30 of HCC1395BL_v1.0 in comparison to those on chromosome 6 of GRCh38 primary assembly. The haplotype of HLA-DRB (labels in red) in HCC1395BL_v1.0 consists of the HLA-DRB1 and HLA-DRB4 genes (human HLA-DR53 haplotype group), while the GRCh38 primary assembly contains HLA-DRB1 and HLA-DRB5 genes (human HLA-DR51 haplotype group). The human HLA-DR53 haplotype is represented only in GRCh38 ALT_REF_LOCI sequences. Although scaffold_30 maps onto GRCh38 entirely in reverse complement, the HLA gene order is preserved between GRCh38 and HCC1395BL_v1.0

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