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| 1 | +# Search DNA Sequences |
| 2 | + |
| 3 | +This example demonstrates how to search DNA sequences from NCBI RefSeq database using BLAST. |
| 4 | + |
| 5 | +## Overview |
| 6 | + |
| 7 | +The DNA search pipeline reads DNA sequence queries and searches against NCBI RefSeq database to find similar sequences and retrieve associated metadata. |
| 8 | + |
| 9 | +## Quick Start |
| 10 | + |
| 11 | +### 1. Build Local BLAST Database (Optional) |
| 12 | + |
| 13 | +If you want to use local BLAST for faster searches, first build the database: |
| 14 | + |
| 15 | +```bash |
| 16 | +./build_db.sh [human_mouse_drosophila_yeast|representative|complete|all] |
| 17 | +``` |
| 18 | + |
| 19 | +Options: |
| 20 | +- `human_mouse_drosophila_yeast`: Download only Homo sapiens, Mus musculus, Drosophila melanogaster, and Saccharomyces cerevisiae sequences (minimal, smallest) |
| 21 | +- `representative`: Download genomic sequences from major categories (recommended, smaller) |
| 22 | +- `complete`: Download all complete genomic sequences from complete/ directory (very large) |
| 23 | +- `all`: Download all genomic sequences from all categories (very large) |
| 24 | + |
| 25 | +The script will create a BLAST database in `refseq_${RELEASE}/` directory. |
| 26 | + |
| 27 | +### 2. Configure Search Parameters |
| 28 | + |
| 29 | +Edit `search_dna_config.yaml` to set: |
| 30 | + |
| 31 | +- **Input file path**: Set the path to your DNA sequence queries |
| 32 | +- **NCBI parameters**: |
| 33 | + - `email`: Your email address (required by NCBI) |
| 34 | + - `tool`: Tool name for NCBI API |
| 35 | + - `use_local_blast`: Set to `true` if you have a local BLAST database |
| 36 | + - `local_blast_db`: Path to your local BLAST database (without .nhr extension) |
| 37 | + |
| 38 | +Example configuration: |
| 39 | +```yaml |
| 40 | +input_path: |
| 41 | + - examples/input_examples/search_dna_demo.jsonl |
| 42 | + |
| 43 | +data_sources: [ncbi] |
| 44 | +ncbi_params: |
| 45 | + email: [email protected] # Required! |
| 46 | + tool: GraphGen |
| 47 | + use_local_blast: true |
| 48 | + local_blast_db: refseq_release/refseq_release |
| 49 | +``` |
| 50 | +
|
| 51 | +### 3. Run the Search |
| 52 | +
|
| 53 | +```bash |
| 54 | +./search_dna.sh |
| 55 | +``` |
| 56 | + |
| 57 | +Or run directly with Python: |
| 58 | + |
| 59 | +```bash |
| 60 | +python3 -m graphgen.run \ |
| 61 | + --config_file examples/search/search_dna/search_dna_config.yaml \ |
| 62 | + --output_dir cache/ |
| 63 | +``` |
| 64 | + |
| 65 | +## Input Format |
| 66 | + |
| 67 | +The input file should be in JSONL format with DNA sequence queries: |
| 68 | + |
| 69 | +```jsonl |
| 70 | +{"type": "text", "content": "BRCA1"} |
| 71 | +{"type": "text", "content": ">query\nATGCGATCG..."} |
| 72 | +{"type": "text", "content": "ATGCGATCG..."} |
| 73 | +``` |
| 74 | + |
| 75 | +## Output |
| 76 | + |
| 77 | +The search results will be saved in the output directory with matched sequences and metadata from NCBI RefSeq. |
| 78 | + |
| 79 | +## Notes |
| 80 | + |
| 81 | +- **NCBI requires an email address** - Make sure to set `email` in `ncbi_params` |
| 82 | +- **Local BLAST** provides faster searches and doesn't require internet connection during search |
| 83 | +- The local BLAST database can be very large (several GB to TB depending on the download type) |
| 84 | +- Adjust `max_concurrent` based on your system resources and API rate limits |
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