AI Article Synopsis

  • The human major histocompatibility complex (MHC) has high genetic diversity, making traditional reference-based alignment methods for DNA sequence assembly less effective.
  • MHConstructor is a new tool that uses a short-read, de novo assembly algorithm specifically for MHC data, allowing for improved assembly in large population studies.
  • This pipeline is unique in offering a reproducible, alignment-free method for analyzing MHC sequences, making it more accessible for researchers.

Article Abstract

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11484429PMC
http://dx.doi.org/10.1186/s13059-024-03412-6DOI Listing

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