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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.

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
The...

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...

Epigenetic Regulation

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...

Epigenetic Regulation

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

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Related Experiment Video

Updated: May 28, 2026

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

Published on: April 4, 2018

Next generation sequencing in epigenetics: insights and challenges.

Emma Meaburn¹, Reiner Schulz

¹Birkbeck University of London, Department of Psychological Sciences, Malet Street, London WC1E 7HX, United Kingdom.

Seminars in Cell & Developmental Biology

|October 27, 2011

Summary

Next-generation sequencing (NGS) advances DNA methylation research, revealing complex epigenetic reprogramming and allele-specific variations. These insights are crucial for understanding genome evolution and common complex diseases.

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Area of Science:

Epigenetics and Genomics
Molecular Biology

Background:

The epigenetics field rapidly adopted next-generation sequencing (NGS) for comprehensive genomic analysis.
Recent focus on DNA methylation, including 5-hydroxymethyl-cytosine, highlights its role in epigenetic reprogramming and pluripotency.

Purpose of the Study:

To summarize methodological advancements in DNA methylation profiling.
To highlight key findings on DNA methylation complexity, genome evolution, and transcription.

Main Methods:

Utilizing next-generation sequencing (NGS) for high-coverage, single-base resolution methylome profiling.
Reviewing recent progress in epigenetics research.

Main Results:

Detailed views of epigenetic modifications across species and cell types.
Discovery of 5-hydroxymethyl-cytosine and its significance.
Characterization of DNA methylation's complexity, role in genome evolution, and link to histone modifications.
Identification of widespread allele-specific epigenetic variation in the human genome.

Conclusions:

NGS has revolutionized the study of DNA methylation and epigenetics.
Understanding DNA methylation is key to unraveling genome evolution and epigenetic reprogramming.
Allele-specific epigenetic variation offers potential for understanding complex human diseases.