acmg-amp

Here are 2 public repositories matching this topic...

junehawk / BIKO-GenomeBoard

Korean population-aware genomic variant interpretation pipeline — deterministic ACMG/AMP classification with curate-then-narrate AI Clinical Board. Offline, research-use-only.

bioinformatics genomics civic cancer-genomics clinvar pharmacogenomics hpo ngs-pipeline variant-interpretation rare-disease oncokb clinical-genomics local-llm ollama medgemma acmg-amp korean-population amp-tiering

Updated May 3, 2026
Python

Mechanism-aware variant interpretation pipeline for monogenic epilepsy: RF + ESM-2 LoRA pathogenicity heads, gain-vs-loss-of-function mechanism classifier, sodium-channel prescribing rule, leave-one-out dynamic-evidence framework.

random-forest lora clinvar pharmacogenomics epilepsy variant-interpretation protein-language-model esm2 clinical-genetics vus-classification acmg-amp sodium-channel missense-variant

Updated Apr 30, 2026
Python

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acmg-amp

Here are 2 public repositories matching this topic...

junehawk / BIKO-GenomeBoard

pipi0616 / seizevar

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