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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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SNiPA: an interactive, genetic variant-centered annotation browser.

Matthias Arnold1, Johannes Raffler1, Arne Pfeufer1

  • 1Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany and Department of Physiology and Biophysics, Weill Cornell Medical College in Qatar, Education City, Qatar Foundation, Doha, Qatar.

Bioinformatics (Oxford, England)
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Summary

This study integrates diverse genomic annotation datasets into a user-friendly webserver, SNIPA, to simplify linking genetic variants to functional information for association studies.

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Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Linking genetic variants to gene function is challenging.
  • Genomic annotation resources are underutilized due to data format heterogeneity.

Purpose of the Study:

  • To create a user-friendly webserver for enhanced accessibility of genomic annotations.
  • To facilitate the interpretation of genetic variants from association studies.

Main Methods:

  • Integration of multiple genomic annotation datasets.
  • Development of a webserver (SNIPA) for data accessibility.

Main Results:

  • A comprehensive and accessible resource for genomic annotations.
  • Improved ability to link genetic variants to functional information.

Conclusions:

  • The SNIPA webserver enhances the utility of genomic annotations for genetic studies.
  • Facilitates the interpretation of genetic variants and their functional implications.