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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.

RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...

Sanger Sequencing

Sanger Sequencing

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...

Maxam-Gilbert Sequencing

Maxam-Gilbert Sequencing

In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
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Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Related Experiment Video

Updated: Jun 8, 2026

DNA Methylation: Bisulphite Modification and Analysis

DNA Methylation: Bisulphite Modification and Analysis

Published on: October 21, 2011

Long-read sequencing technologies and bioinformatics: a new perspective for decoding DNA methylation modifications.

Hanjing Hou^1,2, Yuanfeng Zhang^1,2, Yu Ma^1,2

¹National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, Beijing, P. R. China.

Journal of Translational Medicine

|June 6, 2026

Summary

This summary is machine-generated.

Long-read sequencing (LRS) advances DNA methylation analysis, especially in difficult regions. This review covers LRS tools and applications, aiding researchers in disease-related epigenetic studies.

Keywords:

DNA methylation Epigenetics Long-read sequencing

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Targeted DNA Methylation Analysis by Next-generation Sequencing

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Published on: October 31, 2016

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Last Updated: Jun 8, 2026

DNA Methylation: Bisulphite Modification and Analysis

DNA Methylation: Bisulphite Modification and Analysis

Published on: October 21, 2011

Targeted DNA Methylation Analysis by Next-generation Sequencing

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

Methyl-binding DNA capture Sequencing for Patient Tissues

Methyl-binding DNA capture Sequencing for Patient Tissues

Published on: October 31, 2016

Area of Science:

Epigenetics
Genomics
Bioinformatics

Background:

DNA methylation is a key epigenetic regulator implicated in various diseases.
Long-read sequencing (LRS) enables comprehensive DNA methylation analysis, including challenging genomic areas.
Accurate computational analysis of LRS data is vital for biological insights.

Purpose of the Study:

To review LRS principles and technological advancements for DNA methylation detection.
To provide a comprehensive overview of current LRS-based methylation detection tools and benchmarking studies.
To explore applications, challenges, and future directions in LRS-based methylation detection.

Main Methods:

Description of LRS detection principles and technological improvements.
Overview of existing LRS-based methylation detection tools.
Review of relevant benchmarking studies and applications in biomedical research.

Main Results:

Emergence of numerous bioinformatic tools with superior performance in LRS-based methylation detection.
Identification of key challenges and future perspectives in the field.
Highlighting research progress and critical issues in LRS methylation detection.

Conclusions:

This review offers a framework for advancing LRS-based methylation detection development and application.
It emphasizes the importance of computational tools for reliable biological insights from LRS data.
The review aims to guide researchers in leveraging LRS for epigenetic studies and disease research.