@article{Hu01102024,
author = {Hu, Taishan and Mosbruger, Timothy L. and Tairis, Nikolaos G. and Dinou, Amalia and Jayaraman, Pushkala and Sarmady, Mahdi and Brewster, Kingham and Li, Yang and Hayeck, Tristan J. and Duke, Jamie L. and Monos, Dimitri S.}, 
title = {Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples},
volume = {34}, 
number = {10}, 
pages = {1500-1513}, 
year = {2024}, 
doi = {10.1101/gr.278588.123}, 
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.}, 
URL = {http://genome.cshlp.org/content/34/10/1500.abstract}, 
eprint = {http://genome.cshlp.org/content/34/10/1500.full.pdf+html}, 
journal = {Genome Research} 
}