Analyze Genome Data from VCF Files
Analyzes a user's VCF genome file to answer questions on genetics, metabolism, disease risk, and fitness traits, with a sourced report.
Why it matters
Automate the analysis of genetic data stored in VCF files. This asset processes VCF files to extract and summarize key genetic information, streamlining research and discovery.
Outcomes
What it gets done
Extract genetic information from VCF files.
Query and process genetic data.
Summarize findings from VCF analysis.
Install
Add it to your toolbox
Run in your project directory:
curl -fsSL https://spark.entire.vc/get/genome-analizer | bash Overview
Genome Analyzer
Reads a user's VCF genome file and answers genetics questions - about traits, disease risk, substance metabolism, or fitness - by researching relevant SNPs and interpreting the user's genotype at each one. Produces a structured, plain-language report with a risk table and a not-medical-advice disclaimer. Use it when a user asks about their own genetics, hereditary traits, disease predisposition, or how they metabolize substances like caffeine, alcohol, or medication, and has a VCF file available. It is an informational analysis only, not a medical consultation.
What it does
Genome Analyzer turns a raw VCF genome file into a plain-language answer to a specific genetics question - about hereditary traits, disease predisposition, drug/substance metabolism (caffeine, alcohol, medication), sports ability, or nutrition. It works in three steps: it locates the VCF file in the current directory with Glob (pattern *.vcf), spins up a general-purpose research subagent (via the Task tool, model sonnet) that searches the GWAS Catalog, SNPedia, and scientific literature for SNPs (rsIDs) relevant to the question, then Greps the VCF file for those specific rsIDs and interprets the genotype found at each one.
When to use - and when NOT to
Use it when a user asks about their own genetics - hereditary traits, disease risk, substance metabolism, fitness predisposition, or gene-based nutrition - and has a VCF file available in the working directory. It is explicitly informational, not diagnostic: the skill's own report template ends with a disclaimer that "genetics is probability, not destiny," that environment and lifestyle often matter more than genes, and that the analysis is not medical advice. Do not use it as a substitute for a clinical genetic counselor or a doctor, and do not use it if no VCF file is present - the skill asks the user which file to use if several are found, or reports that none exists.
Inputs and outputs
Input is a single VCF file (any filename, *.vcf) in the current directory, plus the user's natural-language question about a genetics topic. Internally, genotypes are read directly from the VCF's calls: 0/0 means homozygous for the reference allele, 0/1 heterozygous, and 1/1 homozygous for the alternate allele; each is matched against the risk/protective interpretation of that allele gathered in the research step. Output is a single structured Markdown report following a fixed template: a table of SNP/gene/genotype/risk-level/interpretation, a "what this means" section covering strengths and areas of attention, a numbered list of practical recommendations, a summary risk-rating table, and a disclaimer with source links to SNPedia and the GWAS Catalog. The report is deliberately visual, using emoji risk markers (protective/neutral/moderate/high) and topic icons (sports, weight, caffeine, alcohol, nutrition, medication, cardiovascular, general genetics).
Integrations
The skill composes two other Claude Code primitives rather than calling an external API directly: it dispatches a general-purpose subagent via the Task tool (model sonnet) to do the actual SNP research using WebSearch against GWAS Catalog and SNPedia, then uses Glob and Grep locally to find the VCF file and pull out the relevant lines. There is no bundled genome database or bioinformatics library - all genetic reference data comes from the live web research step.
Who it's for
Individuals who have their own VCF genome file (e.g. from a consumer DNA testing service) and want a structured, sourced, plain-language walkthrough of what specific genes/SNPs say about a topic they're curious about - rather than raw variant calls or a wall of clinical jargon.
FAQ
Common questions
Discussion
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