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Related Concept Videos

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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Sanger Sequencing01:57

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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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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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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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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...
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Genome Annotation and Assembly03:36

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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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Methyl-binding DNA capture Sequencing for Patient Tissues
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Getting started in mapping-by-sequencing.

Héctor Candela1, Rubén Casanova-Sáez1, José Luis Micol1

  • 1Instituto de Bioingeniería, Universidad Miguel Hernández, Campus de Elche, 03202, Elche, Spain.

Journal of Integrative Plant Biology
|November 1, 2014
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) offers cost-effective whole-genome sequencing for identifying genetic variations. This review guides geneticists on using NGS and bioinformatics tools for mutation discovery, particularly through mapping-by-sequencing strategies.

Keywords:
Mapping-by-sequencingSHOREmappingmassively parallel sequencingmutation identificationwhole-genome re-sequencing

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Area of Science:

  • Genomics and Bioinformatics
  • Molecular Biology
  • Genetics

Background:

  • Next-generation sequencing (NGS) technologies enable cost-effective whole-genome sequencing.
  • NGS applications include characterizing intraspecific polymorphisms and identifying point mutations.
  • Affordable NGS platforms generate vast amounts of sequence data, but bioinformatic challenges limit adoption.

Purpose of the Study:

  • To provide geneticists unfamiliar with bioinformatics the strategies for incorporating NGS into their research.
  • To review case studies and examples of mutation identification using NGS, specifically mapping-by-sequencing.
  • To highlight the expanding utility of NGS for mutation discovery in diverse species, including those with large genomes.

Main Methods:

  • Review of existing literature and case studies on NGS applications.
  • Focus on mapping-by-sequencing strategies for point mutation identification.
  • Examples from model organisms (plants, C. elegans, S. cerevisiae, D. melanogaster) and crop plants.

Main Results:

  • NGS facilitates rapid mapping and identification of point mutations.
  • Mapping-by-sequencing is a viable strategy for mutation discovery.
  • Successful applications demonstrated across various model species and plants.

Conclusions:

  • NGS technologies are becoming more accessible and powerful for genetic research.
  • Bioinformatic knowledge is crucial for leveraging NGS data effectively.
  • The application of NGS for mutation identification is expanding to species with larger genomes.