Key gene results (IMAGE)
Caption
(A) Fraction of fully reconstructed haplotypes for several representative complex gene regions between an existing pangenome (HPRC Year-1) and the Japanese pangenome from this study.
(B) Comparison of a Japanese haplotype from this study with the linear reference in the KIR region on chromosome 19. Arrows above and to the right indicate genes; red labels mark a newly identified KIR gene configuration. In the black box, diagonal lines show sequence similarity, with darker lines indicating higher similarity. Outside the red dashed region, long continuous diagonals indicate structural correspondence between the two sequences. In contrast, within the red dashed region, only short parallel diagonals are observed, reflecting similarity among KIR genes, with no long one-to-one correspondence across the region. This indicates that the Japanese haplotype has a structure substantially different from the linear reference.
(C) Japanese pangenome graph of the KIR region. Sequences specific to the Japanese haplotype shown in B are colored red, and shared sequences are shown in gray. The novel structure in B mainly corresponds to the red path in the lower central part of the graph.
Credit
Yoshihiko Suzuki et al, Nature Communications, CC BY-NC-ND 4.0
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