Back to Search Start Over

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

Authors :
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
Jill A. Hollenbach
Source :
Genome Biology, Vol 25, Iss 1, Pp 1-23 (2024)
Publication Year :
2024
Publisher :
BMC, 2024.

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.

Details

Language :
English
ISSN :
1474760X
Volume :
25
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genome Biology
Publication Type :
Academic Journal
Accession number :
edsdoj.420c82ac434ddc86e06bc9431d32c9
Document Type :
article
Full Text :
https://doi.org/10.1186/s13059-024-03412-6