Abstract
The human major histocompatibility complex (MHC) is a ∼4 Mb genomic segment on Chromosome 6 that plays a pivotal role in the immune response. Despite its importance in various traits and diseases, its complex nature makes it challenging to accurately characterize on a routine basis. We present a novel approach allowing targeted sequencing and de novo haplotypic assembly of the MHC region in heterozygous samples, using long-read sequencing technologies. Our approach is validated using two reference samples, two family trios, and an African-American sample. We achieved excellent coverage (96.6%–99.9% with at least 30× depth) and high accuracy (99.89%–99.99%) for the different haplotypes. This methodology offers a reliable and cost-effective method for sequencing and fully characterizing the MHC without the need for whole-genome sequencing, facilitating broader studies on this important genomic segment and having significant implications in immunology, genetics, and medicine.
Original language | English (US) |
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Pages (from-to) | 1500-1513 |
Number of pages | 14 |
Journal | Genome Research |
Volume | 34 |
Issue number | 10 |
DOIs | |
State | Published - Oct 2024 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)