# Path Configuration from tools.preprocess import * # Processing context trait = "Aniridia" cohort = "GSE204791" # Input paths in_trait_dir = "../DATA/GEO/Aniridia" in_cohort_dir = "../DATA/GEO/Aniridia/GSE204791" # Output paths out_data_file = "./output/preprocess/3/Aniridia/GSE204791.csv" out_gene_data_file = "./output/preprocess/3/Aniridia/gene_data/GSE204791.csv" out_clinical_data_file = "./output/preprocess/3/Aniridia/clinical_data/GSE204791.csv" json_path = "./output/preprocess/3/Aniridia/cohort_info.json" # Get file paths soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir) # Extract background info and clinical data background_info, clinical_data = get_background_and_clinical_data(matrix_file) # Get unique values per clinical feature sample_characteristics = get_unique_values_by_row(clinical_data) # Print background info print("Dataset Background Information:") print(f"{background_info}\n") # Print sample characteristics print("Sample Characteristics:") for feature, values in sample_characteristics.items(): print(f"Feature: {feature}") print(f"Values: {values}\n") # 1. Gene Expression Data Availability is_gene_available = True # Contains both mRNA and miRNA data according to background # 2. Data Availability and Type Conversion # 2.1 Row identifiers trait_row = 2 # 'disease' field indicates KC vs control status age_row = 0 # 'age' field gender_row = 1 # 'gender' field # 2.2 Conversion functions def convert_trait(value: str) -> Optional[int]: if pd.isna(value): return None value = value.split(': ')[1].lower() if ': ' in value else value.lower() if 'kc' in value: return 1 elif 'control' in value: return 0 return None def convert_age(value: str) -> Optional[float]: if pd.isna(value): return None value = value.split(': ')[1] if ': ' in value else value try: return float(value) except: return None def convert_gender(value: str) -> Optional[int]: if pd.isna(value): return None value = value.split(': ')[1].upper() if ': ' in value else value.upper() if value == 'F': return 0 elif value == 'M': return 1 return None # 3. Save metadata validate_and_save_cohort_info( is_final=False, cohort=cohort, info_path=json_path, is_gene_available=is_gene_available, is_trait_available=trait_row is not None ) # 4. Clinical Feature Extraction if trait_row is not None: clinical_features = 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(clinical_features) print("Preview of clinical features:", preview) clinical_features.to_csv(out_clinical_data_file) # Extract gene expression data from matrix file gene_data = get_genetic_data(matrix_file) # Print first 20 row IDs and shape of data to help debug print("Shape of gene expression data:", gene_data.shape) print("\nFirst few rows of data:") print(gene_data.head()) print("\nFirst 20 gene/probe identifiers:") print(gene_data.index[:20]) # Inspect a snippet of raw file to verify identifier format import gzip with gzip.open(matrix_file, 'rt', encoding='utf-8') as f: lines = [] for i, line in enumerate(f): if "!series_matrix_table_begin" in line: # Get the next 5 lines after the marker for _ in range(5): lines.append(next(f).strip()) break print("\nFirst few lines after matrix marker in raw file:") for line in lines: print(line) # Looking at the gene identifiers, they appear to be probe IDs # (e.g. "(+)E1A_r60_1", "A_19_P00315452") rather than standard human gene symbols. # These identifiers come from a microarray platform and need to be mapped to gene symbols. requires_gene_mapping = True # Extract gene annotation from SOFT file and get meaningful data gene_annotation = get_gene_annotation(soft_file) # Preview gene annotation data print("Gene annotation shape:", gene_annotation.shape) print("\nGene annotation preview:") print(preview_df(gene_annotation)) print("\nNumber of non-null values in each column:") print(gene_annotation.count()) print("\nNote: Gene mapping will use:") print("'ID' column: Probe identifiers") print("'GENE_SYMBOL' column: Contains gene symbols") print("\nExample gene symbol value:") print(gene_annotation['GENE_SYMBOL'].iloc[0]) # 1. Create gene mapping dataframe from annotation mapping_df = get_gene_mapping(gene_annotation, prob_col='ID', gene_col='GENE_SYMBOL') # 2. Apply gene mapping to convert probe-level data to gene expression data gene_data = apply_gene_mapping(gene_data, mapping_df) # Preview the mapped gene expression data print("Shape of gene expression data after mapping:", gene_data.shape) print("\nFirst few rows of mapped data:") print(gene_data.head()) print("\nFirst 20 gene symbols:") print(gene_data.index[:20]) # 1. Normalize gene symbols gene_data = normalize_gene_symbols_in_index(gene_data) # Save normalized gene data gene_data.to_csv(out_gene_data_file) # 2. Link clinical and genetic data try: clinical_data = pd.read_csv(out_clinical_data_file, index_col=0) linked_data = geo_link_clinical_genetic_data(clinical_data, gene_data) # 3. Handle missing values linked_data = handle_missing_values(linked_data, trait) # 4. Determine if features are biased is_trait_biased, linked_data = judge_and_remove_biased_features(linked_data, trait) # 5. Validate 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=linked_data, note="Gene expression data successfully mapped and linked with clinical features" ) # 6. Save linked data only if usable AND trait is not biased if is_usable and not is_trait_biased: linked_data.to_csv(out_data_file) except Exception as e: print(f"Error in data linking and processing: {str(e)}") 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=True, df=pd.DataFrame(), note=f"Data processing failed: {str(e)}" )