Open cgpreston opened 8 months ago
@liammulh , the gnomAD v4 links are now available in the allele registry: https://reg.genome.network/redmine/projects/registry/genboree_registry/by_caid?caid=CA2387254395, and in their JSON output, as well as the GRCh38 coordinates. In January 2024 can we revisit this ticket to add the links to v4?
Sub-ticket for gnomAD v4 update https://github.com/ClinGen/gene-and-variant-curation-tools/issues/47
The gnomAD link out in the VCI is now pointing to the genomic coordinates of the variant in gnomAD v2
4.0.0, of important note: v2.1.1 was on GRCh37, v4 is on GRCh38, which means the genomic mapping is incorrect. The users experience the following behavior:1. For variants present in v2, the gnomAD link now gives an error message saying "variant not found" (ex: variant 21065)2. For variants NOT present in v2, the gnomAD link to look +/- 30 bp will often map incorrectly (ex: variant 65692).Please fix the link such that it goes to the correct coordinates for gnomAD v4 (on GRCh38), and update the text as shown:
Requirements: