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