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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...

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...

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...

Modern Molecular Taxonomy

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

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...

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Related Experiment Video

Updated: May 17, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Clinical integration of next-generation sequencing technology.

R R Gullapalli¹, M Lyons-Weiler, P Petrosko

¹Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

Clinics in Laboratory Medicine

|October 20, 2012

Summary

Next-generation sequencing (NGS) is now accessible for small labs. Successful implementation requires careful validation, secure data handling, targeted analysis software, and trained personnel for accurate genomic interpretation.

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Last Updated: May 17, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

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Area of Science:

Genomics and Bioinformatics
Clinical Laboratory Science

Background:

Next-generation sequencing (NGS) technology has advanced, reducing costs and complexity.
Benchtop sequencers and commercial software are now available for smaller research and clinical laboratories.

Purpose of the Study:

To outline the essential requirements for successfully implementing NGS systems in smaller laboratory settings.
To identify key limitations and challenges associated with adopting these new technologies.

Main Methods:

The article addresses critical implementation aspects, including instrumentation calibration and validation.
It covers secure data transfer, storage, and secondary processing protocols.
The role of software tools for targeted analysis and personnel training is also discussed.

Main Results:

Successful NGS implementation hinges on rigorous validation of instruments, experiments, and readouts.
Secure and efficient data management pipelines are crucial for reliable analysis.
Effective training ensures personnel can assess data quality and interpret genomic findings.

Conclusions:

Implementing NGS in small labs is feasible with attention to technical and operational details.
Addressing validation, data security, analysis tools, and training is key to maximizing the utility of genomic data.