Dirghayu AI Models & WGS Support

DATA_INGESTION.md

@@ -0,0 +1,80 @@
+# Data Ingestion & Training on Large Scale Genome Repositories
+
+Dirghayu is designed to scale from single-sample analysis to population-level training on terabytes of genomic data (e.g., GenomeIndia, 1000 Genomes, UK Biobank).
+
+To train the AI models (`LifespanNet-India`, `DiseaseNet-Multi`) on 100GB+ datasets, we cannot load raw VCF files into RAM. Instead, we use a **Streaming + Columnar** approach.
+
+## 🚀 Strategy: VCF → Parquet → PyTorch Stream
+
+1.  **Ingest**: Convert raw VCFs (row-based, slow text parsing) into **Parquet** files (columnar, compressed, fast binary reads).
+2.  **Stream**: Use a custom PyTorch `IterableDataset` to stream batches of data from disk during training.
+3.  **Train**: Update models incrementally without memory limits.
+
+---
+
+## 🛠 Step 1: Convert VCF Repos to Parquet
+
+Use the provided conversion script (to be created) to process your 100GB+ VCF repository.
+
+```bash
+# Example: Convert a directory of VCFs to partitioned Parquet dataset
+python scripts/vcf_to_parquet.py \
+    --input_dir /path/to/genome_repo/vcfs/ \
+    --output_dir /path/to/processed_data/ \
+    --threads 16
+```
+
+**Why Parquet?**
+-   **Size Reduction**: 100GB VCF -> ~20-30GB Parquet (Snappy compression).
+-   **Speed**: Reading a batch of genotypes is 100x faster than parsing VCF text.
+-   **Queryable**: You can use SQL (via DuckDB) to inspect the data.
+
+---
+
+## 🔗 Step 2: Connect to Data Source
+
+### Option A: Local / High-Performance NAS
+Just point the training script to your processed directory.
+```bash
+python scripts/train_models.py --data_dir /mnt/genomics_data/processed/
+```
+
+### Option B: Cloud Buckets (AWS S3 / GCS)
+If your repo is on the cloud, mount it using `s3fs` or `gcsfuse` so it appears as a local filesystem to PyTorch.
+
+**AWS S3 Example:**
+```bash
+# Mount bucket
+mkdir -p /mnt/s3_data
+s3fs my-genomics-bucket /mnt/s3_data
+
+# Train
+python scripts/train_models.py --data_dir /mnt/s3_data/parquet/
+```
+
+---
+
+## 🧬 Step 3: Training with the `GenomicBigDataset`
+
+The `GenomicBigDataset` class (in `src/data/dataset.py`) handles the complexity:
+1.  It finds all `.parquet` files in your data directory.
+2.  It uses `pyarrow` to read chunks of data efficiently.
+3.  It handles "shuffling" via an in-memory buffer to ensure statistical randomness.
+
+```python
+# Code snippet (how it works internally)
+dataset = GenomicBigDataset(
+    data_dir="/path/to/data",
+    features=["rs123", "rs456", ...], # List of variants to use as features
+    target_col="lifespan"
+)
+dataloader = DataLoader(dataset, batch_size=1024)
+```
+
+## 📝 Requirements for Repository Data
+
+Your repository data should eventually be structured as a table (DataFrame) with:
+-   **Genotype Columns**: e.g., `rs1801133` (values: 0, 1, 2)
+-   **Phenotype Columns**: e.g., `age`, `has_t2d`, `bmi`
+
+*Note: The `vcf_to_parquet.py` script helps flatten VCFs into this format, merging with a clinical metadata CSV if provided.*

demo.py

@@ -11,129 +11,128 @@
 
 import sys
 from pathlib import Path
-from typing import Dict
 
 # Add src to path
 sys.path.insert(0, str(Path(__file__).parent / "src"))
 
-from data import parse_vcf_file, VariantAnnotator
+from data import VariantAnnotator, parse_vcf_file
 from models import NutrientPredictor
 
 
 def run_demo(vcf_path: Path):
     """Run complete Dirghayu pipeline demo"""
-    
+
     print("=" * 80)
     print("DIRGHAYU: India-First Longevity Genomics Platform")
     print("=" * 80)
-    
+
     # Step 1: Parse VCF
     print("\n[1/4] Parsing VCF file...")
     print(f"  Input: {vcf_path}")
-    
+
     variants_df = parse_vcf_file(vcf_path)
     print(f"  [OK] Found {len(variants_df)} variants")
-    
+
     if len(variants_df) == 0:
         print("  [!] No variants found!")
         return
-    
+
     print("\n  Sample variants:")
-    print(variants_df[['chrom', 'pos', 'rsid', 'ref', 'alt', 'genotype']].head())
-    
+    print(variants_df[["chrom", "pos", "rsid", "ref", "alt", "genotype"]].head())
+
     # Step 2: Annotate variants
     print("\n[2/4] Annotating variants with public databases...")
     print("  Sources: Ensembl VEP, gnomAD")
     print("  [!] This makes API calls - may take 30-60 seconds")
-    
+
     annotator = VariantAnnotator()
     annotated_df = annotator.annotate_dataframe(variants_df)
-    
+
     print("\n  [OK] Annotation complete!")
     print("\n  Annotated variants:")
-    print(annotated_df[['rsid', 'gene_symbol', 'consequence', 'gnomad_af']].head())
-    
+    print(annotated_df[["rsid", "gene_symbol", "consequence", "gnomad_af"]].head())
+
     # Step 3: Train model (on synthetic data for demo)
     print("\n[3/4] Training nutrient deficiency predictor...")
     print("  [!] Using synthetic data for demonstration")
-    
+
     predictor = NutrientPredictor()
     predictor.train(
         variants_df=annotated_df,
         labels_df=None,  # Would be real clinical data
-        epochs=30
+        epochs=30,
     )
-    
+
     # Save model
     model_path = Path("models/nutrient_predictor.pth")
     predictor.save(model_path)
-    
+
     # Step 4: Generate predictions
     print("\n[4/4] Generating personalized health predictions...")
-    
+
     predictions = predictor.predict(annotated_df)
-    
+
     print("\n" + "=" * 80)
     print("HEALTH PREDICTION REPORT")
     print("=" * 80)
-    
+
     # Display nutrient deficiency risks
     print("\n[NUTRIENT DEFICIENCY RISK ASSESSMENT]")
     print("-" * 80)
-    
+
     risk_levels = {
         (0.0, 0.3): ("LOW", "[LOW]"),
         (0.3, 0.6): ("MODERATE", "[MOD]"),
-        (0.6, 1.0): ("HIGH", "[HIGH]")
+        (0.6, 1.0): ("HIGH", "[HIGH]"),
     }
-    
+
     for nutrient, risk_score in predictions.items():
         # Determine risk level
         level, icon = "UNKNOWN", "[?]"
-        for (low, high), (l, i) in risk_levels.items():
+        for (low, high), (lvl, icn) in risk_levels.items():
             if low <= risk_score < high:
-                level, icon = l, i
+                level, icon = lvl, icn
                 break
-        
-        nutrient_name = nutrient.replace('_', ' ').title()
+
+        nutrient_name = nutrient.replace("_", " ").title()
         print(f"\n{icon} {nutrient_name}:")
         print(f"   Risk Score: {risk_score:.2%}")
         print(f"   Risk Level: {level}")
-        
+
         # Provide recommendations based on risk
         if risk_score > 0.6:
             recommendations = get_recommendations(nutrient)
-            print(f"   Recommendations:")
+            print("   Recommendations:")
             for rec in recommendations:
                 print(f"     - {rec}")
-    
+
     # Genetic insights from annotated variants
     print("\n" + "=" * 80)
     print("🧬 GENETIC INSIGHTS")
     print("=" * 80)
-    
+
     # Look for key variants
     key_variants = {
-        'rs1801133': 'MTHFR C677T - Affects folate metabolism',
-        'rs429358': 'APOE e4 - Increased Alzheimer\'s risk',
-        'rs601338': 'FUT2 - Affects vitamin B12 absorption',
-        'rs2228570': 'VDR FokI - Affects vitamin D receptor'
+        "rs1801133": "MTHFR C677T - Affects folate metabolism",
+        "rs429358": "APOE e4 - Increased Alzheimer's risk",
+        "rs601338": "FUT2 - Affects vitamin B12 absorption",
+        "rs2228570": "VDR FokI - Affects vitamin D receptor",
     }
-    
-    found_variants = annotated_df[annotated_df['rsid'].isin(key_variants.keys())]
-    
+
+    found_variants = annotated_df[annotated_df["rsid"].isin(key_variants.keys())]
+
     if len(found_variants) > 0:
         print("\nKey variants detected:")
         for _, var in found_variants.iterrows():
-            rsid = var['rsid']
+            rsid = var["rsid"]
             if rsid in key_variants:
                 print(f"\n  - {rsid} ({var['genotype']})")
                 print(f"    Gene: {var.get('gene_symbol', 'Unknown')}")
                 print(f"    Impact: {key_variants[rsid]}")
                 print(f"    Population frequency: {var.get('gnomad_af', 'Unknown')}")
     else:
         print("\n  No high-impact variants detected in this sample")
-    
+
     print("\n" + "=" * 80)
     print("[OK] Demo complete!")
     print("=" * 80)
@@ -148,34 +147,34 @@ def run_demo(vcf_path: Path):
 
 def get_recommendations(nutrient: str) -> list:
     """Get dietary/lifestyle recommendations for nutrient deficiency risk"""
-    
+
     recommendations = {
-        'vitamin_b12': [
+        "vitamin_b12": [
             "Consider B12 supplementation (methylcobalamin 1000 mcg/day)",
             "Increase fortified foods (cereals, plant milk)",
             "If vegetarian, consult about B12 injections",
-            "Monitor serum B12 levels every 6 months"
+            "Monitor serum B12 levels every 6 months",
         ],
-        'vitamin_d': [
+        "vitamin_d": [
             "Vitamin D3 supplementation (2000 IU/day)",
             "15 minutes sun exposure daily (10 AM - 12 PM)",
             "Include fatty fish, egg yolks, fortified milk",
-            "Check 25(OH)D levels quarterly"
+            "Check 25(OH)D levels quarterly",
         ],
-        'iron': [
+        "iron": [
             "Iron-rich foods (lentils, spinach, fortified grains)",
             "Vitamin C with meals to enhance absorption",
             "Avoid tea/coffee with iron-rich meals",
-            "Consider iron supplementation if confirmed deficient"
+            "Consider iron supplementation if confirmed deficient",
         ],
-        'folate': [
+        "folate": [
             "Methylfolate supplementation (400-800 mcg/day)",
             "Leafy greens, legumes, fortified grains",
             "Ensure adequate B6 and B12 intake",
-            "Monitor homocysteine levels"
-        ]
+            "Monitor homocysteine levels",
+        ],
     }
-    
+
     return recommendations.get(nutrient, ["Consult healthcare provider"])
 
 
@@ -186,14 +185,14 @@ def get_recommendations(nutrient: str) -> list:
     else:
         # Use sample VCF
         vcf_path = Path("data/sample.vcf")
-    
+
     if not vcf_path.exists():
         print(f"Error: VCF file not found: {vcf_path}")
         print("\nUsage:")
         print("  python demo.py <path_to_vcf_file>")
         print("\nOr create sample data first:")
         print("  python scripts/download_data.py")
         sys.exit(1)
-    
+
     # Run demo
     run_demo(vcf_path)

pyproject.toml

@@ -42,6 +42,8 @@ dependencies = [
     "pandas>=2.0.0",
     "numpy>=1.24.0",
     "scipy>=1.11.0",
+    "shap>=0.49.1",
+    "matplotlib>=3.10.8",
 
     # Genomics-specific
     "cyvcf2>=0.30.0",
@@ -57,6 +59,10 @@ dependencies = [
     "fastapi>=0.104.0",
     "uvicorn>=0.24.0",
     "pydantic>=2.4.0",
+    "python-multipart>=0.0.9",
+
+    # Reporting
+    "fpdf>=1.7.2",
 
     # Utilities
     "requests>=2.31.0",
@@ -76,6 +82,9 @@ cloud = [
     "google-cloud-bigquery>=3.13.0",
 ]
 
+[tool.hatch.build.targets.wheel]
+packages = ["src/api", "src/data", "src/models", "src/reports"]
+
 [tool.uv]
 # uv-specific configuration for faster installs
 dev-dependencies = [

requirements.txt

@@ -5,12 +5,17 @@ scikit-learn>=1.3.0
 pandas>=2.0.0
 numpy>=1.24.0
 scipy>=1.11.0
+shap>=0.49.1  # Explainability
+matplotlib>=3.10.8  # Plotting
 
 # Genomics-specific
 cyvcf2>=0.30.0  # Fast VCF parsing
 pysam>=0.21.0  # BAM/VCF handling
 biopython>=1.81  # Sequence analysis
 
+# Reporting
+fpdf>=1.7.2  # PDF Generation
+
 # Data storage (local-friendly)
 pyarrow>=13.0.0  # Parquet files
 duckdb>=0.9.0  # SQL on Parquet, no server
@@ -20,6 +25,7 @@ polars>=0.19.0  # Fast dataframes (Rust-based)
 fastapi>=0.104.0
 uvicorn>=0.24.0
 pydantic>=2.4.0
+python-multipart>=0.0.9  # Form data support
 
 # Utilities
 requests>=2.31.0