scientific-variant-interpretation

Automate ACMG-aligned clinical interpretation of genetic variants and generate standardized reports.

3|1|Updated Feb 11, 2026

Search Tags:#cosmic #pharmacogenomics #variant-interpretation #clinvar #acmg #gnomad #oncogenicity

Ready to run

npx skills add https://github.com/nahisaho/satori --skill scientific-variant-interpretation

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: scientific-variant-interpretation
Source: https://github.com/nahisaho/satori/tree/main/src/.github/skills/scientific-variant-interpretation
Command: npx skills add https://github.com/nahisaho/satori --skill scientific-variant-interpretation

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

Clinically interpret genetic variants according to ACMG/AMP guidelines and synthesize multi-database evidence for pathogenicity, pharmacogenomics, and somatic variant interpretation.

Core Features & Use Cases

ACMG/AMP guideline-compliant pathogenicity classification for germline and somatic variants.
Pharmacogenomics (PGx) interpretation and drug-response predictions integrated with ClinVar, PharmGKB, and literature.
End-to-end variant interpretation pipeline from annotation to ACMG classification, producing a standardized report.

Quick Start

Perform a variant interpretation by feeding HGVS notation or rsID for a variant; the system will annotate, aggregate population and functional data, evaluate clinical evidence, and generate a Variant Interpretation Report.

Frequently Asked Questions about scientific-variant-interpretation

High-intent search queries and answers about installing and using this skill.

FAQPage Schema

How do I automate ACMG variant interpretation using ClinVar and gnomAD data?▼

To automate ACMG variant interpretation, you provide an HGVS notation or rsID, and the system annotates the variant and aggregates evidence from ClinVar, gnomAD, and COSMIC. It then evaluates clinical evidence and outputs a standardized variant interpretation report.

What is the process for pharmacogenomics interpretation and drug-response prediction?▼

Pharmacogenomics interpretation integrates clinical data from ClinVar, PharmGKB, and scientific literature to evaluate genetic variants. It predicts drug-response outcomes by applying standardized workflows to generate a comprehensive pharmacogenomics interpretation report.

Can I use this workflow for both germline and somatic variant pathogenicity assessment?▼

Yes, this variant interpretation workflow supports both germline and somatic pathogenicity assessment. It enforces ACMG and AMP criteria to classify variants and synthesizes multi-database evidence for accurate clinical interpretation.

What input format do I need to start the genetic variant interpretation pipeline?▼

You need to provide a genetic variant identifier, specifically either an HGVS notation or an rsID. The system uses this input to automatically annotate the variant, aggregate population and functional data, and enforce ACMG criteria.

How does evidence integration across COSMIC and ClinVar improve oncogenicity evaluation?▼

Evidence integration across COSMIC and ClinVar improves oncogenicity evaluation by synthesizing somatic mutation data and clinical assertions. This multi-database approach enforces ACMG criteria to standardize pathogenicity classification.

What distinguishes an ACMG-aligned variant interpretation report from manual classification?▼

An ACMG-aligned report enforces strict guideline criteria systematically rather than relying on manual classification. It integrates population data from gnomAD and functional evidence to produce a standardized, reproducible pathogenicity assessment.