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MHConstructor: a high-throughput, haplotype-informed solution to the MHC assembly challenge

  • Kristen J. Wade,
  • Rayo Suseno,
  • Kerry Kizer,
  • Jacqueline Williams,
  • Juliano Boquett,
  • Stacy Caillier,
  • Nicholas R. Pollock,
  • Adam Renschen,
  • Adam Santaniello,
  • Jorge R. Oksenberg,
  • Paul J. Norman,
  • Danillo G. Augusto,
  • Jill A. Hollenbach

摘要

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.