# Path Configuration from tools.preprocess import * # Processing context trait = "Duchenne_Muscular_Dystrophy" cohort = "GSE109178" # Input paths in_trait_dir = "../DATA/GEO/Duchenne_Muscular_Dystrophy" in_cohort_dir = "../DATA/GEO/Duchenne_Muscular_Dystrophy/GSE109178" # Output paths out_data_file = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/GSE109178.csv" out_gene_data_file = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/gene_data/GSE109178.csv" out_clinical_data_file = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/clinical_data/GSE109178.csv" json_path = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/cohort_info.json" # Step 1: Initial Data Loading from tools.preprocess import * # 1. Identify the paths to the SOFT file and the matrix file soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir) # 2. Read the matrix file to obtain background information and sample characteristics data background_prefixes = ['!Series_title', '!Series_summary', '!Series_overall_design'] clinical_prefixes = ['!Sample_geo_accession', '!Sample_characteristics_ch1'] background_info, clinical_data = get_background_and_clinical_data(matrix_file, background_prefixes, clinical_prefixes) # 3. Obtain the sample characteristics dictionary from the clinical dataframe sample_characteristics_dict = get_unique_values_by_row(clinical_data) # 4. Explicitly print out all the background information and the sample characteristics dictionary print("Background Information:") print(background_info) print("Sample Characteristics Dictionary:") print(sample_characteristics_dict) # Step 2: Dataset Analysis and Clinical Feature Extraction # Step 1: Gene expression availability (Affymetrix HG-U133 Plus 2.0 mRNA arrays) is_gene_available = True # Step 2.1: Determine availability rows from the provided Sample Characteristics Dictionary # Trait (Duchenne Muscular Dystrophy) label is not explicitly present -> cannot infer reliably from provided keys trait_row = None # Age is available at key 0 age_row = 0 # Gender is available at key 3 gender_row = 3 # Step 2.2: Conversion functions def _after_colon(val: str) -> str: if val is None: return "" parts = str(val).split(":", 1) v = parts[1] if len(parts) > 1 else parts[0] return v.strip() def convert_trait(val): # No trait field available; return None to indicate missing _ = _after_colon(val) return None def convert_age(val): v = _after_colon(val).lower() if v in {"na", "n/a", "", "none"}: return None # remove potential units and commas v = v.replace("years", "").replace("year", "").replace("yrs", "").replace("yr", "").replace(",", "").strip() try: return float(v) except Exception: return None def convert_gender(val): v = _after_colon(val).strip().lower() if v in {"m", "male"}: return 1 if v in {"f", "female"}: return 0 if v in {"na", "n/a", "", "none"}: return None # occasional typos or single letters if v.startswith("m"): return 1 if v.startswith("f"): return 0 return None # Step 3: Initial filtering metadata save is_trait_available = trait_row is not None _ = validate_and_save_cohort_info( is_final=False, cohort=cohort, info_path=json_path, is_gene_available=is_gene_available, is_trait_available=is_trait_available ) # Step 4: Clinical feature extraction (skip because trait_row is None) if trait_row is not None: selected_clinical_df = geo_select_clinical_features( clinical_df=clinical_data, trait=trait, trait_row=trait_row, convert_trait=convert_trait, age_row=age_row, convert_age=convert_age, gender_row=gender_row, convert_gender=convert_gender ) print(preview_df(selected_clinical_df)) # Save clinical data os.makedirs(os.path.dirname(out_clinical_data_file), exist_ok=True) selected_clinical_df.to_csv(out_clinical_data_file, index=True) # Step 3: Gene Data Extraction # 1. Use the get_genetic_data function from the library to get the gene_data from the matrix_file previously defined. gene_data = get_genetic_data(matrix_file) # 2. Print the first 20 row IDs (gene or probe identifiers) for future observation. print(gene_data.index[:20]) # Step 4: Gene Identifier Review # Affymetrix probe set IDs detected (e.g., "1007_s_at", "1552256_a_at"), not HGNC gene symbols. requires_gene_mapping = True print(f"requires_gene_mapping = {requires_gene_mapping}") # Step 5: Gene Annotation # 1. Use the 'get_gene_annotation' function from the library to get gene annotation data from the SOFT file. gene_annotation = get_gene_annotation(soft_file) # 2. Use the 'preview_df' function from the library to preview the data and print out the results. print("Gene annotation preview:") print(preview_df(gene_annotation)) # Step 6: Gene Identifier Mapping # Identify the appropriate columns for mapping based on the annotation preview probe_id_col = 'ID' gene_symbol_col = 'Gene Symbol' # Extract the mapping dataframe mapping_df = get_gene_mapping(gene_annotation, prob_col=probe_id_col, gene_col=gene_symbol_col) # Apply mapping to convert probe-level data to gene-level expression gene_data = apply_gene_mapping(expression_df=gene_data, mapping_df=mapping_df) # Step 7: Data Normalization and Linking import os # 1. Normalize gene symbols and save gene-level data normalized_gene_data = normalize_gene_symbols_in_index(gene_data) os.makedirs(os.path.dirname(out_gene_data_file), exist_ok=True) normalized_gene_data.to_csv(out_gene_data_file) # 2. Attempt to link only if clinical data with trait is available clinical = None if 'selected_clinical_data' in globals(): clinical = selected_clinical_data elif 'selected_clinical_df' in globals(): clinical = selected_clinical_df has_trait_data = (clinical is not None) and (trait in getattr(clinical, 'index', [])) if has_trait_data: # 2. Link linked_data = geo_link_clinical_genetic_data(clinical, normalized_gene_data) # 3. Handle missing values linked_data = handle_missing_values(linked_data, trait) # 4. Bias checks is_trait_biased, unbiased_linked_data = judge_and_remove_biased_features(linked_data, trait) # 5. Final validation and save cohort info is_usable = validate_and_save_cohort_info( is_final=True, cohort=cohort, info_path=json_path, is_gene_available=True, is_trait_available=True, is_biased=is_trait_biased, df=unbiased_linked_data, note="INFO: Trait labels available and data linked." ) # 6. Save linked data if usable if is_usable: os.makedirs(os.path.dirname(out_data_file), exist_ok=True) unbiased_linked_data.to_csv(out_data_file, index=True) else: # Trait not available: skip linking and final validation; ensure metadata reflects unavailability. _ = validate_and_save_cohort_info( is_final=False, cohort=cohort, info_path=json_path, is_gene_available=True, is_trait_available=False )