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Exploring human genetic variation

  • Overview
  • Search
  • Course Content
  • Where can I find human genetic variation data?
    • Variation data in Ensembl
    • UniProt variation and interpretation
    • GWAS Catalog
    • European Genome-Phenome Archive (EGA)
    • European Variation Archive (EVA)
  • How do I interpret genetic variants?
    • The MANE Collaboration
    • Variation Effect Predictor (VEP)
    • DECIPHER – Mapping the Clinical Genome
    • Catalogue of Somatic Mutations in Cancer (COSMIC)
  • Trainers biographies
  • Further learning
  • Technical help sheet
  • Your feedback

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Variation data in Ensembl

Trainer: Louisse Mirabueno

Overview: Work with the Ensembl Outreach team to learn how to annotate your own variation data by using the online VEP tool.

Learning outcomes

By the end of this session you will be able to:

  • Access genetic variation data in Ensembl
  • Annotate your own variant data with the Variant Effect Predictor (VEP)

Materials:

  • Presentation slides
  • Demos and exercises
  • Ensembl main website: https://www.ensembl.org
  • Recorded session

  • page navigation-left-circle-1_1 Where can I find human genetic variation data?
  • pageUniProt variation and interpretation navigation-right-circle-1_1