Related Experiment Video
Updated: May 16, 2026
11:26
Sequencing of mRNA from Whole Blood using Nanopore Sequencing
Published on: June 3, 2019
Review of massively parallel DNA sequencing technologies
Sowmiya Moorthie1, Christopher J Mattocks, Caroline F Wright
1PHG Foundation, 2 Worts Causeway, Cambridge, CB1 8RN UK.
The HUGO Journal
|December 4, 2012
Summary
Advances in DNA sequencing technologies are making gene sequencing faster and cheaper. This review explores current and future developments, aiming for routine use in clinical diagnosis.
Area of Science:
- Genomics
- Biotechnology
- Medical Diagnostics
Background:
- DNA sequencing technologies have advanced significantly, impacting science and medicine.
- High costs and labor intensity have limited routine biomedical applications.
- Recent innovations are driving down costs and improving accessibility.
Purpose of the Study:
- To review the current state of novel sequencing technologies.
- To examine upcoming developments in the field.
- To identify challenges for routine clinical integration.
Main Methods:
- Review of recent literature on DNA sequencing platforms.
- Analysis of technological advancements in targeting and data analysis.
- Assessment of cost-effectiveness and clinical utility.
Main Results:
- Rapid progress in sequencing platforms and supporting technologies.
- Significant reductions in the cost of human genome sequencing.
- Emerging potential for widespread clinical diagnostic use.
Conclusions:
- New sequencing technologies are poised to become routine biomedical tools.
- Further development is needed to address remaining challenges for clinical diagnosis.
- The field is rapidly evolving, necessitating continuous review.
Related Concept Videos
03:00Next-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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
01:57Sanger 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...
01:05Maxam-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...
Challenges of the Maxam-Gilbert Method
The...
03:21RNA-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...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
02:54Evolutionary Relationships through Genome Comparisons
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
01:29Modern 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...