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Related Concept Videos

Genomics02:02

Genomics

36.6K
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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Next-generation Sequencing03:00

Next-generation Sequencing

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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
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Sanger Sequencing01:57

Sanger Sequencing

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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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Maxam-Gilbert Sequencing01:05

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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.
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RNA-seq03:21

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. 
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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Related Experiment Video

Updated: Jul 29, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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Genomics in the long-read sequencing era.

Erwin L van Dijk1, Delphine Naquin1, Kévin Gorrichon2

  • 1Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198, Gif-sur-Yvette, France.

Trends in Genetics : TIG
|May 25, 2023
PubMed
Summary

Long-read sequencing (LRS) technologies offer powerful genomic insights. Recent advancements in LRS, bioinformatics, and applications are revolutionizing genome and transcriptome analysis, including direct modification detection.

Keywords:
PacBio sequencinggenomicslong-read sequencing (LRS)nanopore sequencingnext-generation sequencing (NGS)single molecule real time sequencing (SMRT)third generation sequencing (TGS)

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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Long-read sequencing (LRS) technologies have evolved significantly, overcoming early limitations.
  • Recent progress includes enhanced read length, throughput, accuracy, and improved bioinformatics tools.

Purpose of the Study:

  • To review the current state of LRS technologies and novel method development.
  • To highlight the impact of LRS on genomics research.
  • To discuss future potential in understanding genetic variation, transcriptomics, and epigenetics.

Main Methods:

  • Review of recent advancements in long-read sequencing technologies.
  • Analysis of key findings enabled by LRS in genomics and transcriptomics.
  • Discussion of LRS applications in detecting DNA/RNA modifications.

Main Results:

  • LRS technologies now offer high-resolution genome and transcriptome sequencing.
  • Direct detection of DNA and RNA modifications is a key capability.
  • Significant progress has been made in read length, throughput, and accuracy.

Conclusions:

  • LRS technologies are crucial for comprehensive genomic analysis.
  • Future applications promise deeper understanding of human genetic variation, transcriptomics, and epigenetics.
  • Continued development of LRS and bioinformatics tools will drive future discoveries.