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

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.

SUBMITTER: Wade KJ 

PROVIDER: S-EPMC11142050 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature