Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Department of Biomedical Informatics, Anschutz Medical Campus, University of Colorado, Aurora, CO, USA.
Genome Biol. 2024 Oct 17;25(1):274. doi: 10.1186/s13059-024-03412-6.
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.
人类主要组织相容性复合体 (MHC) 中的极高遗传多态性限制了基于参考的比对方法在序列组装中的应用。我们将一种短读长、从头组装算法整合到一个工作流程中,用于对 MHC 进行新的应用。MHConstructor 是一个容器化流水线,专为高通量、单倍型信息、可重复组装大型人群队列的全基因组测序和目标捕获短读数据而设计。迄今为止,尚无其他自包含工具可从短读数据生成从头 MHC 组装。MHConstructor 方便了广泛使用高质量、无需比对的 MHC 序列分析。