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.

Details

Title
MHConstructor: a high-throughput, haplotype-informed solution to the MHC assembly challenge
Author
Wade, Kristen J; Rayo Suseno; Kizer, Kerry; Williams, Jacqueline; Juliano Boquett; Caillier, Stacy; Pollock, Nicholas R; Renschen, Adam; Santaniello, Adam; Oksenberg, Jorge R; Norman, Paul J; Augusto, Danillo G; Hollenbach, Jill A
Pages
1-23
Section
Software
Publication year
2024
Publication date
2024
Publisher
BioMed Central
ISSN
14747596
e-ISSN
1474760X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3201607041
Copyright
© 2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.