TY  - JOUR
A1  - Hu, Taishan
A1  - Mosbruger, Timothy L.
A1  - Tairis, Nikolaos G.
A1  - Dinou, Amalia
A1  - Jayaraman, Pushkala
A1  - Sarmady, Mahdi
A1  - Brewster, Kingham
A1  - Li, Yang
A1  - Hayeck, Tristan J.
A1  - Duke, Jamie L.
A1  - Monos, Dimitri S.
T1  - Targeted and complete genomic sequencing of the major histocompatibility complex in haplotypic form of individual heterozygous samples
Y1  - 2024/10/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1500 
EP  - 1513 
DO  - 10.1101/gr.278588.123 
VL  - 34 
IS  - 10 
UR  - http://genome.cshlp.org/content/34/10/1500.abstract 
N2  - 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. 
ER  -