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AI-Powered DNA Research Assistant

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Ricardo Lipas Augusto

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docs(readme): restructure sections for better flow and add npm publish config

...<br>Reorder README sections with Preview kept near top, Quick Start and<br>API Keys moved up, and Project Goals moved toward the end.<br>Deduplicate prerequisites and build steps.

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README.md

๐Ÿงฌ DNAgent โ€” AI-Powered DNA Research Assistant

DNAgent is a CLI-based AI agent that loads raw DNA data files, searches and cross-references genetic variants against gene databases and public annotation APIs (ClinVar, gnomAD), and helps researchers and curious individuals explore possible implications of a broad range of genes.

โš ๏ธ For research and educational purposes only. DNAgent does not provide medical diagnoses or clinical recommendations. Always consult a qualified healthcare provider for medical decisions.

๐Ÿ‘€ Preview

Click to expand โ€” full sample output<br>$ dnagent --file ../dna/AncestryDNA.txt --model openrouter/deepseek/deepseek-v4-flash

๐Ÿ“„ DNA File Loaded<br>โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€<br>Path: ../dna/AncestryDNA.txt<br>Records: 675.356<br>Chr: 26<br>Het: 202.834<br>Hom: 472.522

โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•โ•

๐Ÿงฌ DNAgent โ€” DNA Research Assistant<br>Model: openrouter/deepseek/deepseek-v4-flash | Thinking: medium<br>โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€

Welcome to DNAgent โ€” DNA Research Assistant

To get started, you can:<br>โ€ข Search a variant: "Search for rs4680"<br>โ€ข Look up a gene: "Tell me about the MTHFR gene"<br>โ€ข Analyze variants: "Analyze variants in the BRCA1 gene"<br>โ€ข Annotate: "What do we know about rs4680?"<br>โ€ข Get help: ?help

Data file: ../dna/AncestryDNA.txt โ€” ready to explore!<br>โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€โ”€<br>๐Ÿงฌ

## ๐Ÿ‘‹ Welcome to DNAgent!

Great, your AncestryDNA file has been loaded successfully with **675,356 records**. Let me give you a quick overview of what stands out:

### ๐Ÿ“Š Key Observations About Your Data

| Metric | Value | Notes |<br>|--------|-------|-------|<br>| **Total SNPs** | 675,356 | Solid coverage across the genome |<br>| **Heterozygous** | 202,834 | ~30% โ€” variants where you have two different alleles |<br>| **Homozygous Alt** | 472,522 | ~70% โ€” variants where you have two copies of the non-reference allele |<br>| **Insertions** | 6,389 | These are interesting โ€” AncestryDNA flags these as structural variants |<br>| **Deletions** | 0 | None detected in this dataset |

**Chromosome coverage** is good across all autosomes (1โ€“22), plus **25,218 records on the X chromosome** (Chr 23), a handful on Chr 24 (Y โ€” 3 records), Chr 25 (Mitochondrial โ€” 36 records), and **263 records on Chr 26** (likely the XY pseudoautosomal region / PAR).

### ๐Ÿ” What You Can Explore Here

Here are some things you might want to check out:

1. **๐Ÿงฌ Common health & trait genes**<br>- **MTHFR** โ€” folate metabolism (a very popular one to check)<br>- **CYP1A2** โ€” caffeine metabolism ("slow" vs "fast" metabolizer)<br>- **ACTN3** โ€” muscle performance/power athlete trait<br>-...

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