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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Identification of Eleven Novel Synonymous Alleles Using Next Generation Sequencing.

Maria Loginova^1,2, 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.

|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.

Keywords:

HLA class I HLA class II NGS new synonymous allele

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Targeted DNA Methylation Analysis by Next-generation Sequencing

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

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.