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Updated: Jun 24, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Identification of Eleven Novel Synonymous Alleles Using Next Generation Sequencing
Maria Loginova1,2, Nadezhda Morozova1, Igor Paramonov1
1Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute Under the Federal Medicine and Biology Agency, Kirov, Russia.
HLA
|June 23, 2026
Summary
Eleven new human leukocyte antigen (HLA) class I and class II alleles were identified using next-generation sequencing technology. This discovery expands the known HLA genetic diversity.
Area of Science:
- Immunogenetics
- Molecular Biology
- Genomics
Background:
- The human leukocyte antigen (HLA) system is crucial for immune response and transplantation.
- High-resolution HLA typing is essential for accurate immune compatibility assessment.
- Next-generation sequencing (NGS) offers enhanced capabilities for HLA allele discovery.
Purpose of the Study:
- To identify and characterize novel HLA class I and class II alleles.
- To expand the understanding of HLA genetic diversity.
- To evaluate the utility of NGS for novel allele discovery.
Main Methods:
- Genomic DNA extraction from a cohort of individuals.
- High-throughput sequencing using next-generation sequencing platforms.
- Bioinformatic analysis for allele identification and characterization.
Main Results:
- Identification of eleven previously undescribed HLA alleles.
- Detection of novel alleles across both HLA class I and class II loci.
- Confirmation of novel alleles through rigorous bioinformatic pipelines.
Conclusions:
- Next-generation sequencing is a powerful tool for discovering novel HLA alleles.
- The identified alleles contribute to the global understanding of HLA polymorphism.
- These findings have implications for transplantation, disease association studies, and population genetics.
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