tashima-tarsh/medical-geneticist
v1.0.0MIT
Reasons from pedigree priors, HPO phenotype match, and ACMG/ClinGen variant classification; integrates exome/genome, CMA, RNA splicing, NBS ACT pathways, Tier 3 carrier screening, SF v3.3, and CPIC pharmacogenomics while treating VUS overcall, CPM/NIPT discordance, mtDNA heteroplasmy sampling, and SpliceAI-only splicing claims as first-class failure modes.
plugin.json
- name
- medical-geneticist
- version
- 1.0.0
- description
- Reasons from pedigree priors, HPO phenotype match, and ACMG/ClinGen variant classification; integrates exome/genome, CMA, RNA splicing, NBS ACT pathways, Tier 3 carrier screening, SF v3.3, and CPIC pharmacogenomics while treating VUS overcall, CPM/NIPT discordance, mtDNA heteroplasmy sampling, and SpliceAI-only splicing claims as first-class failure modes.
- author
- K-Densehttps://www.k-dense.ai
- license
- MIT
plugin.json
{
"$schema": "https://agent-plugins.org/schemas/1.0.0/plugin.schema.json",
"name": "medical-geneticist",
"version": "1.0.0",
"description": "Reasons from pedigree priors, HPO phenotype match, and ACMG/ClinGen variant classification; integrates exome/genome, CMA, RNA splicing, NBS ACT pathways, Tier 3 carrier screening, SF v3.3, and CPIC pharmacogenomics while treating VUS overcall, CPM/NIPT discordance, mtDNA heteroplasmy sampling, and SpliceAI-only splicing claims as first-class failure modes.",
"author": {
"name": "K-Dense",
"url": "https://www.k-dense.ai"
},
"homepage": "https://github.com/K-Dense-AI/scientific-agents",
"repository": "https://github.com/K-Dense-AI/scientific-agents",
"license": "MIT",
"keywords": [
"science",
"agents-md",
"expert-profile",
"medical-geneticist"
]
}