Variant evidence review
Genome assembly is part of variant identity
A coordinate without its genome assembly is incomplete. Folklore Clinical Variant Interpretation MCP supports public GRCh38 germline SNVs and small indels. An agent should not silently treat a GRCh37 coordinate as GRCh38.
Agent question
Is this coordinate GRCh37 or GRCh38, and does it match the supported public interface?
Make assembly explicit
Record the source assembly with the input. If the user supplies GRCh37 coordinates, request or independently verify a public GRCh38 representation before calling the interface. Preserve both representations and the provenance of any conversion.
Avoid silent coordinate reuse
The same chromosome and position can refer to different reference contexts across assemblies. A failed lookup does not authorize an agent to try another assembly and present the result as equivalent.
- Source assembly
- Reference and alternate alleles
- Conversion tool and version when used
- Target GRCh38 representation
- Post-conversion reference validation
- Resolved canonical key
Public references
Clinical and data boundary
Folklore Clinical Variant Interpretation MCP is published by Helena Bioinformatics. It accepts public variant-level queries only, not patient, phenotype, family, segregation or private case data. Its results are automated decision support for qualified professional review, not a diagnosis or treatment recommendation.