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Related Concept Videos

Next-generation Sequencing03:00

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-seq03:21

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...
Genomics02:02

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 Sequencing01:57

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 Sequencing01:05

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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary 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...

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Updated: May 29, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Exome sequencing: a transformative technology.

Andrew B Singleton1

  • 1Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20837, USA. singleta@mail.nih.gov

The Lancet. Neurology
|September 24, 2011
PubMed
Summary
This summary is machine-generated.

Exome sequencing identifies genetic mutations missed by older methods, enabling disease research in more families. This faster, cheaper approach advances understanding of rare diseases and genetic risk factors.

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Amplicon Sequencing using the Long-Read Sequencing Technologies
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Amplicon Sequencing using the Long-Read Sequencing Technologies

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Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Amplicon Sequencing using the Long-Read Sequencing Technologies
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Amplicon Sequencing using the Long-Read Sequencing Technologies

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Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
10:24

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

Published on: August 29, 2014

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Genetic studies traditionally relied on positional cloning, limited by family size and data.
  • Many diseases' genetic underpinnings remain unknown due to these limitations.

Purpose of the Study:

  • To highlight the advancements and applications of exome sequencing in genetic research.
  • To discuss the potential of exome sequencing in identifying disease-causing mutations and risk factors.

Main Methods:

  • Exome sequencing utilizes DNA enrichment and massively parallel sequencing.
  • Identifies protein-coding variants across the genome.

Main Results:

  • Exome sequencing successfully identifies mutations in families previously considered uninformative.
  • It is faster and more cost-effective than traditional genetic methods.
  • Proven effective in diagnosing numerous rare diseases.

Conclusions:

  • Exome sequencing is revolutionizing genetic mutation discovery, akin to genome-wide association studies.
  • It facilitates the identification of rare causal variants and protein-coding risk variants.
  • The technique has broad applications in research and clinical settings, paving the way for whole-genome sequencing.