sallybg
commented
2 days ago We'll also want to think about how to display these possible genomic variants (@afrubin has suggested using Cat-VRS), and whether we want to limit this feature to pillar project score sets. It will probably be important to distinguish between these possible genomic variants vs. actual genomic variants provided by users as n. or c. HGVS strings.
For score sets where HGVS variant strings are provided only at the protein level, provide all possible genomic-level changes associated with the amino acid change described by the HGVS protein string. This is necessary for the IGVF pillar project. We may choose to generate these as VRS objects through the mapper, or we could pass the protein-level mapped VRS object to another data source such as ClinVar to calculate the possible nucleic acid changes for us.