# Path Configuration from tools.preprocess import * # Processing context trait = "Duchenne_Muscular_Dystrophy" cohort = "GSE79263" # Input paths in_trait_dir = "../DATA/GEO/Duchenne_Muscular_Dystrophy" in_cohort_dir = "../DATA/GEO/Duchenne_Muscular_Dystrophy/GSE79263" # Output paths out_data_file = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/GSE79263.csv" out_gene_data_file = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/gene_data/GSE79263.csv" out_clinical_data_file = "./output/z2/preprocess/Duchenne_Muscular_Dystrophy/clinical_data/GSE79263.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 import os import re # 1) Gene expression availability is_gene_available = True # Transcriptomic gene expression per background info # 2) Variable availability trait_row = 2 # 'disease state' with values like Duchenne muscular dystrophy / healthy age_row = 4 # 'age' with numeric years or unknown gender_row = None # No gender information found # 2.2) Converters def _after_colon(value: str) -> str: if value is None: return "" s = str(value).strip() if ":" in s: s = s.split(":", 1)[1].strip() return s def convert_trait(value): v = _after_colon(value).strip().lower() if v in {"na", "n/a", "unknown", ""}: return None # Map DMD cases to 1 if ("duchenne" in v) or (v == "dmd") or ("duchenne muscular dystropy" in v): return 1 # Map healthy/control to 0 if v in {"healthy", "control", "normal"}: return 0 return None def convert_age(value): v = _after_colon(value).strip().lower() if v in {"na", "n/a", "unknown", ""}: return None m = re.search(r"(\d+(\.\d+)?)", v) if m: try: # Return as float if decimals exist, else int num = float(m.group(1)) return int(num) if num.is_integer() else num except Exception: return None return None def convert_gender(value): v = _after_colon(value).strip().lower() if v in {"female", "f"}: return 0 if v in {"male", "m"}: return 1 if v in {"na", "n/a", "unknown", ""}: return None return None # 3) Save initial metadata 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 ) # 4) Clinical feature extraction (only if trait data is available) 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 ) preview = preview_df(selected_clinical_df) print(preview) os.makedirs(os.path.dirname(out_clinical_data_file), exist_ok=True) selected_clinical_df.to_csv(out_clinical_data_file) # 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 print("requires_gene_mapping = True") # 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 # Select appropriate columns for mapping: probe IDs ('ID') and gene symbols ('Symbol') prob_col = 'ID' gene_col = 'Symbol' # Build mapping dataframe from annotation mapping_df = get_gene_mapping(gene_annotation, prob_col=prob_col, gene_col=gene_col) # Apply mapping to convert probe-level data to gene-level data gene_data = apply_gene_mapping(expression_df=gene_data, mapping_df=mapping_df) # Normalize gene symbols to standard symbols and aggregate duplicates gene_data = normalize_gene_symbols_in_index(gene_data) # Step 7: Data Normalization and Linking import os # 1. Normalize gene symbols and save normalized gene expression data # Note: gene_data was already normalized in Step 6; calling again is idempotent and safe. 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. Link clinical and genetic data linked_data = geo_link_clinical_genetic_data(selected_clinical_df, normalized_gene_data) # 3. Handle missing values linked_data = handle_missing_values(linked_data, trait) # 4. Assess bias and remove biased demographic features 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( True, cohort, json_path, True, True, is_trait_biased, unbiased_linked_data ) # 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)