"""Phase 3: Build final clean dataset with proper splits, labels, and features.""" import pandas as pd import numpy as np from pathlib import Path import json from sklearn.model_selection import train_test_split import warnings warnings.filterwarnings('ignore') ROOT = Path("/Users/manhnguyen/Project/NOC_DNA_V2") RECONSTRUCTED_DIR = ROOT / "data/reconstructed" RAW_DATA_DIR = ROOT / "data/PROVEDIt_1-5-Person CSVs UnFiltered" OUTPUT_DIR_RD14 = ROOT / "data/reconstructed/rd14_clean" OUTPUT_DIR_RD12 = ROOT / "data/reconstructed/rd12_clean" OUTPUT_DIR_RD14.mkdir(parents=True, exist_ok=True) OUTPUT_DIR_RD12.mkdir(parents=True, exist_ok=True) def load_sample_labels(): """Load sample labels from Phase 2.""" print("šŸ“– Loading sample labels from Phase 2...") labels_df = pd.read_csv(RECONSTRUCTED_DIR / "sample_labels.csv") print(f"āœ… Loaded {len(labels_df)} samples") return labels_df def filter_high_quality_samples(labels_df): """Filter for high-quality samples based on criteria.""" print("\nšŸ” Filtering for high-quality samples...") print(f" Starting with: {len(labels_df)} samples") # Filter 1: Must have at least 20 markers filtered = labels_df[labels_df['num_markers'] >= 20].copy() print(f" After marker count filter: {len(filtered)} samples") # Filter 2: Only keep 1-5 person samples (should all be) filtered = filtered[filtered['num_contributors'].isin([1, 2, 3, 4, 5])].copy() print(f" After contributor count filter: {len(filtered)} samples") # Filter 3: Only keep known studies filtered = filtered[filtered['study_id'].isin(['RD14-0003', 'RD12-0002'])].copy() print(f" After study filter: {len(filtered)} samples") # Filter 4: Only keep known kits known_kits = ['IDPlus28', 'F6C29', 'GF29', 'IDPlus29', 'PP16HS32'] filtered = filtered[filtered['kit'].isin(known_kits)].copy() print(f" After kit filter: {len(filtered)} samples") print(f"\n āœ… Final filtered count: {len(filtered)} samples") return filtered def balance_classes(labels_df): """Balance unknown_present classes (0 vs 1).""" print("\nāš–ļø Balancing class distribution...") # Separate by class no_unknown = labels_df[labels_df['unknown_present'] == 0] has_unknown = labels_df[labels_df['unknown_present'] == 1] print(f" No unknown (0): {len(no_unknown)}") print(f" Has unknown (1): {len(has_unknown)}") # Balance by downsampling the larger class min_class_size = min(len(no_unknown), len(has_unknown)) no_unknown_balanced = no_unknown.sample(n=min_class_size, random_state=42) has_unknown_balanced = has_unknown.sample(n=min_class_size, random_state=42) balanced = pd.concat([no_unknown_balanced, has_unknown_balanced], ignore_index=True) balanced = balanced.sample(frac=1, random_state=42).reset_index(drop=True) print(f" āœ… Balanced dataset: {len(balanced)} samples ({len(no_unknown_balanced)} per class)") return balanced def create_splits(labels_df): """Create train/dev/test splits stratified by unknown_present.""" print("\nšŸ“Š Creating train/dev/test splits...") # 60/20/20 split train, temp = train_test_split( labels_df, test_size=0.4, random_state=42, stratify=labels_df['unknown_present'] ) dev, test = train_test_split( temp, test_size=0.5, random_state=42, stratify=temp['unknown_present'] ) # Add partition column train['partition'] = 'train' dev['partition'] = 'dev' test['partition'] = 'test' # Add split_id for multi-split format combined = pd.concat([train, dev, test], ignore_index=True) combined['split_id'] = 'split_01' # Can extend to multiple splits later combined['benchmark_id'] = combined['study_id'].apply( lambda x: 'rd14-fullref-50_multisplit_v2' if x == 'RD14-0003' else 'rd12-fullref-61_multisplit_v2' ) print(f" Train: {len(train)} samples") print(f" Dev: {len(dev)} samples") print(f" Test: {len(test)} samples") return combined def extract_peak_features(sample_file, raw_data_dir): """Extract peak features from raw CSV for a sample.""" features = {} try: # Find the CSV file in raw data found_files = list(raw_data_dir.rglob(f"{sample_file}")) if not found_files: return features csv_path = found_files[0] df = pd.read_csv(csv_path) # Extract peak statistics by marker for _, row in df.iterrows(): marker = row['Marker'] # Count non-empty peaks peaks = 0 max_height = 0 sum_height = 0 for i in range(1, 101): height_col = f'Height {i}' if height_col in df.columns: height = row[height_col] if pd.notna(height) and height != '' and height != 'nan': try: h = float(height) if h > 0: peaks += 1 max_height = max(max_height, h) sum_height += h except: pass if peaks > 0: features[f"{marker}_peak_count"] = peaks features[f"{marker}_max_height"] = max_height features[f"{marker}_sum_height"] = sum_height except Exception as e: pass return features def extract_marker_features(sample_genotype): """Extract marker-based features.""" features = {} if not sample_genotype: return features # Count markers features['num_markers'] = len(sample_genotype) # Allele distribution num_homozygous = sum(1 for alleles in sample_genotype.values() if len(set(alleles.split(','))) == 1) features['num_homozygous'] = num_homozygous features['num_heterozygous'] = len(sample_genotype) - num_homozygous return features def build_feature_matrix(labels_df): """Build complete feature matrix with peak and marker features.""" print("\nšŸ› ļø Building feature matrix...") features_list = [] for idx, row in labels_df.iterrows(): if idx % 100 == 0: print(f" Processing {idx}/{len(labels_df)}...", end='\r') sample_file = row['sample_file'] feature_dict = { 'sample_file': sample_file, 'study_id': row['study_id'], 'kit': row['kit'], 'num_contributors': row['num_contributors'], 'num_known': row['num_known'], 'num_unknown': row['num_unknown'], 'unknown_present': row['unknown_present'], 'num_markers_detected': row['num_markers'], 'partition': row['partition'], 'split_id': row['split_id'], 'benchmark_id': row['benchmark_id'] } # Try to add peak features peak_features = extract_peak_features(sample_file, RAW_DATA_DIR) feature_dict.update(peak_features) features_list.append(feature_dict) feature_df = pd.DataFrame(features_list) print(f"āœ… Created feature matrix: {len(feature_df)} samples Ɨ {len(feature_df.columns)} features") return feature_df def save_dataset(feature_df): """Save dataset split by study.""" print("\nšŸ’¾ Saving datasets...") # Split by study rd14_df = feature_df[feature_df['study_id'] == 'RD14-0003'].copy() rd12_df = feature_df[feature_df['study_id'] == 'RD12-0002'].copy() # Save RD14 rd14_labels = rd14_df[['sample_file', 'benchmark_id', 'split_id', 'partition', 'study_id', 'kit', 'num_known', 'num_unknown', 'unknown_present', 'num_contributors']].copy() rd14_labels.to_csv(OUTPUT_DIR_RD14 / "sample_labels_all_splits.csv", index=False) # Save RD12 rd12_labels = rd12_df[['sample_file', 'benchmark_id', 'split_id', 'partition', 'study_id', 'kit', 'num_known', 'num_unknown', 'unknown_present', 'num_contributors']].copy() rd12_labels.to_csv(OUTPUT_DIR_RD12 / "sample_labels_all_splits.csv", index=False) print(f" āœ… RD14 dataset: {len(rd14_df)} samples") print(f" File: {OUTPUT_DIR_RD14}/sample_labels_all_splits.csv") print(f" āœ… RD12 dataset: {len(rd12_df)} samples") print(f" File: {OUTPUT_DIR_RD12}/sample_labels_all_splits.csv") # Save full feature matrices rd14_df.to_csv(OUTPUT_DIR_RD14 / "features_matrix.csv", index=False) rd12_df.to_csv(OUTPUT_DIR_RD12 / "features_matrix.csv", index=False) # Create summary summary = { "rd14": { "total_samples": len(rd14_df), "train": len(rd14_df[rd14_df['partition'] == 'train']), "dev": len(rd14_df[rd14_df['partition'] == 'dev']), "test": len(rd14_df[rd14_df['partition'] == 'test']), "unknown_0": len(rd14_df[rd14_df['unknown_present'] == 0]), "unknown_1": len(rd14_df[rd14_df['unknown_present'] == 1]), "num_features": len(rd14_df.columns) }, "rd12": { "total_samples": len(rd12_df), "train": len(rd12_df[rd12_df['partition'] == 'train']), "dev": len(rd12_df[rd12_df['partition'] == 'dev']), "test": len(rd12_df[rd12_df['partition'] == 'test']), "unknown_0": len(rd12_df[rd12_df['unknown_present'] == 0]), "unknown_1": len(rd12_df[rd12_df['unknown_present'] == 1]), "num_features": len(rd12_df.columns) } } with open(OUTPUT_DIR_RD14 / "dataset_summary.json", "w") as f: json.dump(summary, f, indent=2) with open(OUTPUT_DIR_RD12 / "dataset_summary.json", "w") as f: json.dump(summary, f, indent=2) print(f"\nšŸ“Š Dataset Summary:") print(json.dumps(summary, indent=2)) return rd14_df, rd12_df def main(): print("=" * 80) print("šŸ”§ PHASE 3: Build Final Clean Dataset with Proper Splits") print("=" * 80) # Load sample labels from Phase 2 labels_df = load_sample_labels() # Filter for high quality filtered_df = filter_high_quality_samples(labels_df) # Balance classes balanced_df = balance_classes(filtered_df) # Create splits split_df = create_splits(balanced_df) # Build feature matrix feature_df = build_feature_matrix(split_df) # Save datasets rd14_df, rd12_df = save_dataset(feature_df) print("\n" + "=" * 80) print("āœ… PHASE 3 COMPLETE!") print("=" * 80) print(f"\nDatasets ready for training:") print(f" RD14: {OUTPUT_DIR_RD14}/sample_labels_all_splits.csv") print(f" RD12: {OUTPUT_DIR_RD12}/sample_labels_all_splits.csv") print(f"\nNext step: Phase 4 - Retrain models with new data") if __name__ == "__main__": main()