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Related Concept Videos

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...
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.
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...
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...

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Related Experiment Video

Updated: Jun 11, 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

Whole human exome capture for high-throughput sequencing.

Dae-Won Kim1, Seong-Hyeuk Nam, Ryong Nam Kim

  • 1Division of Malaria and Parasitic Diseases, National Institute of Health, Seoul, Korea.

Genome
|July 10, 2010
PubMed
Summary

Researchers developed a whole human exome capture method using oligonucleotide hybridization and high-throughput sequencing. This technique efficiently resequences the exome, identifying microRNAs and novel single nucleotide polymorphisms (SNPs).

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Related Experiment Videos

Last Updated: Jun 11, 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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Area of Science:

  • Genomics
  • Molecular Biology

Background:

  • The human exome, comprising protein-coding regions, is crucial for understanding genetic variation and disease.
  • Efficient and comprehensive exome sequencing is essential for large-scale genomic studies.

Purpose of the Study:

  • To develop and validate a hybridization-based method for whole human exome capture.
  • To assess the efficiency and coverage of this method for genome-wide resequencing.

Main Methods:

  • Whole human exome capture using synthesized oligonucleotides on a high-density microarray.
  • High-throughput sequencing of captured exons using a Genome Sequencer FLX.

Main Results:

  • 71% of uniquely mapped reads fell within target exome regions.
  • Achieved coverage of 94% of human genes and 87% of exons.
  • Generated a resequenced whole human exome database including 501 microRNAs and 307 novel single nucleotide polymorphisms (SNPs).

Conclusions:

  • The developed method demonstrates practical usefulness for genome-wide exome analysis.
  • This approach enables efficient identification of genetic variations, including microRNAs and SNPs.