# Path Configuration from tools.preprocess import * # Processing context trait = "Essential_Thrombocythemia" cohort = "GSE159514" # Input paths in_trait_dir = "../DATA/GEO/Essential_Thrombocythemia" in_cohort_dir = "../DATA/GEO/Essential_Thrombocythemia/GSE159514" # Output paths out_data_file = "./output/preprocess/3/Essential_Thrombocythemia/GSE159514.csv" out_gene_data_file = "./output/preprocess/3/Essential_Thrombocythemia/gene_data/GSE159514.csv" out_clinical_data_file = "./output/preprocess/3/Essential_Thrombocythemia/clinical_data/GSE159514.csv" json_path = "./output/preprocess/3/Essential_Thrombocythemia/cohort_info.json" # Get relevant file paths soft_file_path, matrix_file_path = geo_get_relevant_filepaths(in_cohort_dir) # Extract background info and clinical data from the matrix file background_info, clinical_data = get_background_and_clinical_data(matrix_file_path) # Get dictionary of unique values per row in clinical data unique_values_dict = get_unique_values_by_row(clinical_data) # Print background info print("Background Information:") print("-" * 50) print(background_info) print("\n") # Print clinical data unique values print("Sample Characteristics:") print("-" * 50) for row, values in unique_values_dict.items(): print(f"{row}:") print(f" {values}") print() # 1. Gene Expression Data Availability is_gene_available = True # This is microarray gene expression data based on background info # 2.1 Data Availability # The disease field (row 0) contains disease status that indicates whether a patient has MF condition trait_row = 0 # Age and gender not available in the characteristics data age_row = None gender_row = None # 2.2 Data Type Conversion Functions def convert_trait(value: str) -> int: """Convert disease status to binary - 1 for Pre-PMF and Overt-PMF (primary MF), 0 for PPV and PET (secondary MF)""" if not isinstance(value, str): return None value = value.split(': ')[-1].strip() if value in ['Pre-PMF', 'Overt-PMF']: return 1 # Primary MF elif value in ['PPV', 'PET']: return 0 # Secondary MF return None def convert_age(value: str) -> float: return None # Not used since age data unavailable def convert_gender(value: str) -> int: return None # Not used since gender data unavailable # 3. Save 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. Extract Clinical Features if trait_row is not None: selected_clinical = 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 of selected clinical features:") print(preview_df(selected_clinical)) # Save clinical data selected_clinical.to_csv(out_clinical_data_file) # Extract gene expression data genetic_data = get_genetic_data(matrix_file_path) # Print first 20 probe IDs print("First 20 probe IDs:") print(genetic_data.index[:20]) # The gene identifiers appear to be probe IDs from a microarray platform # These are not standard human gene symbols and need to be mapped requires_gene_mapping = True # Extract gene annotation from SOFT file gene_annotation = get_gene_annotation(soft_file_path) # Preview column names and first few values preview_dict = preview_df(gene_annotation) print("Column names and preview values:") for col, values in preview_dict.items(): print(f"\n{col}:") print(values) # 1. & 2. Get gene mapping dataframe # 'ID' column in gene annotation matches probe IDs in gene expression data # 'Gene Symbol' column contains the target gene symbols mapping_data = get_gene_mapping(gene_annotation, prob_col='ID', gene_col='Gene Symbol') # 3. Apply gene mapping to convert probe-level data to gene expression data gene_data = apply_gene_mapping(genetic_data, mapping_data) # Preview the result print("\nFirst few rows and columns of gene expression data:") print(preview_df(gene_data)) # 1. Normalize gene symbols and save normalized gene data normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) # Read the processed clinical data file clinical_df = pd.read_csv(out_clinical_data_file, index_col=0) # Link clinical and genetic data using the normalized gene data linked_data = geo_link_clinical_genetic_data(clinical_df, normalized_gene_data) # Handle missing values systematically linked_data = handle_missing_values(linked_data, trait) # Detect bias in trait and demographic features, remove biased demographic features is_biased, linked_data = judge_and_remove_biased_features(linked_data, trait) # Validate data quality and save cohort info note = "Expression data comparing patients with Essential Thrombocythemia to controls with other myeloproliferative disorders (PMF, PV). No age or gender data available." 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_biased, df=linked_data, note=note ) # Save linked data if usable if is_usable: linked_data.to_csv(out_data_file) else: print(f"Dataset {cohort} did not pass quality validation and will not be saved.")