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

Kristen J WadeRayo SusenoKerry KizerJacqueline WilliamsJuliano BoquettStacy CaillierNicholas R PollockAdam RenschenAdam SantanielloJorge R OksenbergPaul J NormanDanillo G AugustoJill A Hollenbach
Published in: bioRxiv : the preprint server for biology (2024)
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.
Keyphrases
  • high throughput
  • electronic health record
  • single molecule
  • endothelial cells
  • big data
  • machine learning
  • single cell
  • artificial intelligence
  • induced pluripotent stem cells
  • pluripotent stem cells
  • solid state