The extremely high levels of genetic polymorphism within the human major histocompatibility complex (MHC) limit the usefulness of reference-based alignment methods for sequence assembly. We incorporate a short-read, de novo assembly algorithm into a workflow for novel application to the MHC. MHConstructor is a containerized pipeline designed for high-throughput, haplotype-informed, reproducible assembly of both whole genome sequencing and target capture short-read data in large, population cohorts. To-date, no other self-contained tool exists for the generation of de novo MHC assemblies from short-read data. MHConstructor facilitates wide-spread access to high-quality, alignment-free MHC sequence analysis.

中文翻译：

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MHConstructor：一种针对 MHC 组装挑战的高通量、单倍型信息解决方案


人类主要组织相容性复合体 （MHC） 中极高水平的遗传多态性限制了基于参考的比对方法在序列组装中的有用性。我们将短读从头组装算法整合到工作流程中，以新颖地应用于 MHC。MHConstructor 是一种容器化管道，设计用于在大型群体队列中实现全基因组测序和靶标捕获短读长数据的高通量、单倍型信息、可重现的组装。迄今为止，还没有其他自包含的工具用于从短读长数据生成从头 MHC 组装体。MHConstructor 有助于广泛访问高质量、无比对的 MHC 序列分析。