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ASHG 2021 Ancillary Workshop: Using the Ensembl genome browser to interrogate disease-associated variants

Course Details

Lead Trainer
Michal Szpak
Event Dates
2021-10-18 9am until 1pm (US Eastern Time)
Genetic variation between individuals results in a range of human phenotypes, from differences in the immune response against transmissible diseases, such as COVID-19, to rare developmental disorders. The Ensembl genome browser and Variant Effect Predictor (VEP) toolset allows fast and flexible interrogation and annotation of genetic variants to predict functional consequences in the context of the Ensembl/GENCODE and RefSeq genesets, allowing further variant filtering and prioritisation.
This virtual workshop will introduce you to the principles of interrogating variation data using the Ensembl genome browser. You will also learn how to use the Ensembl VEP to map genetic variants onto Ensembl/GENCODE transcripts and other annotation including the MANE Select and MANE Plus Clinical transcript sets, regulatory regions and regions of evolutionary conservation to determine their likely functional effects.
The workshop is aimed at new and existing Ensembl users, from the wet-lab, diagnostic and industry communities. There are no prerequisites for this workshop.


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