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Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Mismatch Repair01:36

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Mapping-by-Sequencing of Point and Insertional Mutations with Easymap.

Samuel Daniel Lup1, David Wilson-Sánchez2, José Luis Micol3

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

Methods in Molecular Biology (Clifton, N.J.)
|April 24, 2022
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Summary

Mapping-by-sequencing rapidly identifies genes underlying mutant phenotypes. Easymap software simplifies this process, enabling researchers to pinpoint causal mutations efficiently using next-generation sequencing data.

Keywords:
Allele frequency analysisBulk segregant analysisEasymapForward geneticsHigh-throughput sequencingInsertional mutationLinkage analysisMapping-by-sequencingSNP (single-nucleotide polymorphism)

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Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Traditional gene mapping for mutant phenotypes is time-consuming.
  • Mapping-by-sequencing accelerates genetic dissection using next-generation sequencing (NGS).
  • Bioinformatics expertise is often a barrier to implementing mapping-by-sequencing.

Purpose of the Study:

  • To provide a protocol for mapping-by-sequencing accessible to researchers of all bioinformatics skill levels.
  • To introduce Easymap, a novel software tool for analyzing mapping-by-sequencing data.
  • To facilitate the identification of causal genes for mutant phenotypes.

Main Methods:

  • Detailed description of generating mapping populations and NGS data.
  • Utilizing the Easymap software for analyzing NGS data.
  • Candidate mutation identification and causality assessment.

Main Results:

  • Easymap software enables efficient analysis of mapping-by-sequencing data.
  • Provides comprehensive information for assessing candidate mutation causality.
  • Streamlines the process of linking mutant phenotypes to specific genomic regions.

Conclusions:

  • The protocol and Easymap software empower researchers to conduct mapping-by-sequencing.
  • Facilitates rapid identification of causal loci for desired mutant phenotypes.
  • Democratizes advanced genetic analysis techniques.