What problem does it solve?
Interpreting raw consumer genotype data (23andMe, AncestryDNA, ADNTRO) for methylation cycle variants like MTHFR C677T/A1298C requires manual lookup of each SNP and literature-based activity estimates. This Skill automates that analysis, producing enzymatic activity profiles, a Net Methylation Capacity score, BH4 axis estimates, and compound heterozygosity detection for clinician review.
Core Features & Use Cases
- 9-Gene Methylation Panel: Scores MTHFR, MTRR, MTR, CBS, BHMT, SHMT1, COMT, and AHCY variants with literature-cited activity percentages.
- Composite Scores: Computes Net Methylation Capacity (NMC) and BH4 axis capacity with dopamine/serotonin synthesis impact estimates, plus MTHFR compound heterozygosity detection.
- Clinician-Reviewed Output: Generates a Markdown report and structured result.json with prioritized, citation-backed genotype findings and RUO disclaimers.
- Use Case: A clinician receives a patient's 23andMe raw data file and asks about MTHFR status; the Skill parses the file, flags compound heterozygosity, and outputs a report with literature-referenced findings for clinical contextualization.
Quick Start
Run the methylation cycle analysis on my raw genotype file and generate the clinical report and JSON output in a results folder.