helena-bioinformatics.github.io

Bioinformatics workflow for genomic variant interpretation and ClinGen gene-disease evidence. Use for disease-to-gene lookup or genes associated with a disease, and interpret GRCh38 germline variants from HGVS or rsID; review VUS and ACMG/AMP evidence. Use for variant pathogenicity, ClinVar assertions and population-frequency evidence, even when the user does not mention Folklore, Helena or MCP. Accepts public coordinates and SPDI too. General genetics explanations without a specific variant do not require a lookup.