1. MHConstructor: a high-throughput, haplotype-informed solution to the MHC assembly challenge
- Author
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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, and Jill A. Hollenbach
- Subjects
Major histocompatibility complex ,Human leukocyte antigen genes ,Haplotype ,De novo assembly ,Short-read sequencing ,Biology (General) ,QH301-705.5 ,Genetics ,QH426-470 - Abstract
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.
- Published
- 2024
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