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Conclusion

In today's workshop you learned to:

Image of resources & flow we used today
  • search for information about a human disorder => MedGen
  • find what is known about a genetic variant => ClinVar & dbSNP
  • find what is known about a gene, it's normal expression and function => NCBI Gene
  • map the variant onto successive biological sequences with annotations => Genome Data Viewer (GDV), Graphical Sequence Viewer for NCBI Nucleotide and NCBI Protein database record
  • interpret all of the above information along with additional structure/function information => Conserved Domains database & CD-Search results 
  • predict the molecular impact of a variant and use this for understanding a patient’s disease etiology

We worked with some cool things today, how do I learn more about using them?

Viewing sequences and annotations in the Genome Data Viewer (GDV) & Sequence Viewer
Exploring 3D biomolecular structures in iCn3D
Learning about human genetic variants for implementation in clinical practice

Thanks for participating today!

NCBI has a lot of resources to help the clinical and scientific research community!

Some great ones that you might not be familiar with are:   
    • dbGaP - human studies with genetic/genomic data
    • GEO - functional genomics experiments with data
    • PubChem BioAssay - biological activity assays measuring the impact of chemical compounds and RNAi.
    • BioProject - a catalog of almost all experimental study data at NCBI (not including PubChem BioAssay...)
    • and all those other sequence-related databases
Keep an eye on our webpages & come back to visit often as we are continually updating and improving our resources!


You can follow us on social media for announcements of new resources, features, improvements and outreach events:

blog iconNCBI Insights Blog
outreach calendar iconNCBI Outreach Events Calendar - with more Workshops, Webinars, Codeathons & Conference announcements

youtube iconNCBI YouTube Channel & Playlists - with Tutorials, recorded Webinars and more!

twitter iconNCBI's Twitter Feed
linkedin iconNCBI's LinkedIn Page
facebook iconNCBI on Facebook
github iconNCBI's GitHub site

Last Reviewed: May 20, 2023