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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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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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Updated: Jan 3, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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GeneDB and Wikidata.

Magnus Manske1, Ulrike Böhme1, Christoph Püthe1

  • 1Parasites and Microbes, Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK.

Wellcome Open Research
|November 19, 2019
PubMed
Summary
This summary is machine-generated.

Importing genomic annotation data into Wikidata leverages existing resources and community efforts. This approach enriches data and overcomes challenges of maintaining authoritative genomic information.

Keywords:
GeneDBMediaWikiWikibaseWikidataannotationcurationgenomereference

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Area of Science:

  • Genomics
  • Bioinformatics
  • Data Management

Background:

  • Maintaining authoritative genomic annotation data is resource-intensive.
  • Challenges include data updates, interlinking, and community contributions.
  • Limited resources often hinder comprehensive genomic data support.

Purpose of the Study:

  • To demonstrate how importing GeneDB annotation data into Wikidata can overcome resource limitations.
  • To explore leveraging existing resources for genomic data management.
  • To integrate scientific and volunteer communities for data enrichment.

Main Methods:

  • Importing GeneDB genomic annotation data into Wikidata.
  • Utilizing Wikidata's infrastructure for data storage and linking.
  • Facilitating community annotation within the Wikidata framework.

Main Results:

  • Successful integration of GeneDB annotation data into Wikidata.
  • Demonstrated leveraging of existing resources and community involvement.
  • Enrichment of the original genomic annotation information through collaborative efforts.

Conclusions:

  • Wikidata provides a viable platform for managing and enriching genomic annotation data.
  • Importing data into Wikidata allows for sustainable support and community engagement.
  • This method enhances the accessibility and utility of genomic information.