- Course overview
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- What is genetic variation?
- Exploring publicly available data
- European Variation Archive
- Browsing genomes with Ensembl
- Ensembl Variant Effect Predictor
- Investigating variation with UniProt
- European Genome-Phenome Archive
- Investigating genotype-phenotype data using the GWAS Catalog
- Exploring somatic mutations in cancer
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European Variation Archive
The European Variation Archive (EVA) is an open-access database that accepts all types of precise genetic variants, ranging from single nucleotide polymorphisms to large structural variants, observed in germline or somatic sources, from any organism. This can also include clinically relevant variant data from human populations.
The EVA aims to be a ‘one-stop shop’ of open-access genetic variation datasets. This lets researchers, pre-doctoral students, reviewers (anyone, really) find and access genetic variation data in one place rather than needing to search across various locations. RS IDs are assigned to variants submitted to the EVA and this data is made available periodically through data releases.
This recorded webinar, with Baron Koylass, EMBL-EBI, covers various methods of data access, including bulk download of accessioned variants and a detailed dive into the latest EVA data release 3; the first release to contain existing variants updated to a new genome build.