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DNA Mixture Analysis - Unknown Contributor Detection (Optimized v2.0)

πŸ“Š Dataset Overview

This dataset contains optimized machine learning models and data for detecting unknown contributors in DNA mixture samples.

Key Metrics

  • F1 Score: 0.7135 βœ… (optimized, +5.66% improvement)
  • Recall: 0.8600 (86% detection rate)
  • Precision: 0.6262 (balanced for forensics)
  • Samples: 500 total (408 RD14 + 92 RD12 DNA kits)
  • Features: 260 domain-specific DNA metrics
  • Evaluation: 5-fold stratified cross-validation

πŸ—‚οΈ Directory Structure

β”œβ”€β”€ data/
β”‚   β”œβ”€β”€ combined_enhanced_features.csv (500 Γ— 260)
β”‚   β”œβ”€β”€ rd14_enhanced_features.csv (408 Γ— 260)
β”‚   └── rd12_enhanced_features.csv (92 Γ— 260)
β”œβ”€β”€ results/
β”‚   β”œβ”€β”€ cross_validation_results.csv
β”‚   β”œβ”€β”€ performance_summary.csv
β”‚   β”œβ”€β”€ performance_by_fold.csv
β”‚   └── data_statistics.json
β”œβ”€β”€ reports/
β”‚   β”œβ”€β”€ EXECUTIVE_SUMMARY.md
β”‚   β”œβ”€β”€ TECHNICAL_REPORT.md
β”‚   β”œβ”€β”€ OPTIMIZATION_REPORT.md
β”‚   └── DEPLOYMENT_GUIDE.md
└── code/
    β”œβ”€β”€ inference_pipeline.py
    β”œβ”€β”€ optimization_params.json
    └── dataset_summary.json

🎯 Performance (Optimized)

Model F1 Score Precision Recall
Ensemble 0.7135 0.6262 0.8600
XGBoost 0.7482 0.6548 0.9000
CatBoost 0.6324 0.5595 0.7667

Optimization Strategy

  • Weights: XGBoost 0.70, CatBoost 0.30
  • Threshold: 0.42 (optimized for forensic recall)
  • Improvement: +0.0382 F1 (+5.66%) from baseline

πŸ“š Documentation

Quick Start

Start with EXECUTIVE_SUMMARY.md for:

  • Problem overview
  • Key results
  • Improvement over baseline
  • Production deployment status

Technical Details

See TECHNICAL_REPORT.md for:

  • Complete methodology
  • Feature engineering (260 domain-specific features)
  • Cross-validation results
  • Error analysis
  • Future work

Implementation

See DEPLOYMENT_GUIDE.md for:

  • Installation instructions
  • Python API usage
  • Integration examples
  • Configuration options

πŸ”§ How to Use

Load Data in Python

import pandas as pd

# Load combined features
df = pd.read_csv('data/combined_enhanced_features.csv')

# 500 samples Γ— 260 features
print(df.shape)  # (500, 260)

# Access CV results
cv_results = pd.read_csv('results/cross_validation_results.csv')

Use Inference Pipeline

from code.inference_pipeline import DNAMixtureAnalyzer

analyzer = DNAMixtureAnalyzer(model_dir='.')
prediction = analyzer.predict(sample_features)

print(f"Unknown present: {prediction['unknown_present']}")
print(f"Confidence: {prediction['confidence']:.1%}")

πŸ“Š Dataset Characteristics

Class Distribution

  • No Unknown Contributors: 470 samples (94%)
  • Has Unknown Contributors: 30 samples (6%)
  • Imbalance Ratio: 15.7:1

DNA Kits

  • RD14: 408 samples (81.6%)
  • RD12: 92 samples (18.4%)

Features (260 total)

  • Peak heights (count, max, sum, mean, std)
  • Peak ratio (peak₁/peakβ‚‚)
  • Allele balance (min/max peaks)
  • Homozygosity indicator (binary)
  • Peak consistency (coefficient of variation)
  • Applied across 20+ STR markers

πŸŽ“ Citation

@dataset{manhngvu_dna_noc_v2,
  title={DNA Mixture Analysis: Unknown Contributor Detection (Optimized v2.0)},
  author={Nguyen, Manh},
  year={2026},
  publisher={Hugging Face},
  url={https://huggingface.co/datasets/manhngvu/dna_noc}
}

πŸš€ Use Cases

  • Forensic DNA Analysis: Detect unknown contributors in mixture samples
  • Case Screening: Prioritize cases for further investigation
  • Research: Benchmark ensemble methods on imbalanced DNA data
  • Reproduction: Complete methodology and code for scientific reproducibility

βœ… Quality Assurance

  • βœ… 500 complete samples with 260 features each
  • βœ… No missing values after preprocessing
  • βœ… Stratified 5-fold cross-validation
  • βœ… Hyperparameter optimization (Optuna)
  • βœ… No data leakage in evaluation
  • βœ… Reproducible with fixed random seeds

πŸ“ž Support

For questions about:

  • Data: See data_statistics.json
  • Results: See results/ directory
  • Implementation: See code/ directory
  • Methodology: See reports/ directory

Version: 2.0 (Optimized)
Updated: 2026-05-08
Status: Production-Ready βœ…

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