We are scientists and software engineers at Nationwide Children's Hospital and Oregon Health & Sciences University developing libraries and workflows to apply GA4GH Genomic Knowledge Standards to data on the Genomic Analysis, Visualization and Informatics Lab-space (AnVIL) platform.
- Advancing AI-readiness of GREGoR data with GA4GH Genomic Knowledge Standards: transforming GREGoR data into searchable Cohort Allele Frequency objects
- VRS AnVIL Toolkit: Process and perform VRS-based lookups on VCFs. Retrieve evidence from the VICC MetaKB.
- vrsix: Construct rapidly-searchable indices for VRS-annotated VCFs
- VRS Annotator: Terra workflow to annotate VCFs with VRS identifiers
- vrsix-workflow: Terra workflow for using vrsix to index VRS-annotated VCFs