Variant Curation Portal

Development

See CONTRIBUTING.md.

Creating a project on the portal

• Navigate to https://lof.curation.broadinstitute.org/projects.

• Click "Create project", name the project (often this is the gene symbol, e.g. 'PCSK9')

• Create a list of variants using the script

  • For a single gene

    python scripts/get_gnomad_lof_variants.py --gene-ids ENSG00000169174 --gnomad-version 4 --output ./data/PCSK9.json
    

  • For a list of variants

    python scripts/get_gnomad_lof_variants.py --gnomad-version 4 --variants-file ./data/input_variants.csv --output ./data/output_variants.json
    

• Navigate back to the portal, on the project click "Upload variants"

• Upload the list of variants generated by the script

• Add the emails of the project leads(s) as additional project owners