High-resolution KIR allele annotations for HPRC 47 assemblies and other reference genomes using SKIRT

Leveraging the high-quality genome assemblies from the Human Pangenome Reference Consortium (HPRC), we present a novel bioinformatic tool, the Structural KIR annoTator (SKIRT), to annotate, identify, and discover hundreds of novel alleles, more than a dozen structural variations among KIR genes, and all haplotypes carrying novel alleles, confirming KIR genetic diversity. The use of HPRC data needs to comply with the rules announced by HPRC.

本研究依托人类泛基因组参考联盟（Human Pangenome Reference Consortium, HPRC）产出的高质量基因组组装序列，开发了一款新型生物信息学工具——结构型KIR注释器（Structural KIR annoTator, SKIRT），可用于注释、识别并发现数百个新型等位基因、KIR基因家族中十余种结构变异，以及所有携带新型等位基因的单倍型，从而验证KIR基因的遗传多样性。使用HPRC相关数据需遵守该联盟发布的相关规则。