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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

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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...

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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...

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Related Experiment Video

Updated: Mar 20, 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

Next-Generation Proficiency Testing.

Jeremy P Segal¹

¹Division of Genomic and Molecular Pathology, Department of Pathology, University of Chicago, Chicago, Illinois.

The Journal of Molecular Diagnostics : JMD

|May 29, 2016

Summary

This summary is machine-generated.

Proficiency testing can now be directly applied to next-generation sequencing (NGS) data analysis. This validation method ensures the accuracy and reliability of NGS results in research and clinical settings.

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Area of Science:

Genomics
Bioinformatics
Clinical Diagnostics

Background:

Next-generation sequencing (NGS) generates vast amounts of data.
Ensuring the accuracy of post-sequencing analysis is critical for reliable results.
Proficiency testing is a standard quality assurance measure in many laboratory disciplines.

Purpose of the Study:

To highlight the feasibility of applying proficiency testing to NGS data analysis.
To emphasize the importance of quality control in genomic data interpretation.
To introduce a novel approach for validating NGS analysis pipelines.

Main Methods:

The commentary discusses the methodology presented by Davies et al.
Focuses on the direct application of proficiency testing to post-sequencing data.
Reviews the process of evaluating the accuracy of bioinformatics pipelines.

Main Results:

Proficiency testing is demonstrated as a feasible approach for NGS data analysis.
The study validates a method for assessing the quality of bioinformatics tools.
Confirms the potential for standardized quality control in genomic data interpretation.

Conclusions:

Direct proficiency testing offers a robust method for ensuring the quality of NGS data analysis.
This approach can enhance the reliability and reproducibility of genomic studies.
Adoption of such methods is crucial for advancing clinical genomics and research.