# Path Configuration from tools.preprocess import * # Processing context trait = "Endometrioid_Cancer" cohort = "GSE94523" # Input paths in_trait_dir = "../DATA/GEO/Endometrioid_Cancer" in_cohort_dir = "../DATA/GEO/Endometrioid_Cancer/GSE94523" # Output paths out_data_file = "./output/z2/preprocess/Endometrioid_Cancer/GSE94523.csv" out_gene_data_file = "./output/z2/preprocess/Endometrioid_Cancer/gene_data/GSE94523.csv" out_clinical_data_file = "./output/z2/preprocess/Endometrioid_Cancer/clinical_data/GSE94523.csv" json_path = "./output/z2/preprocess/Endometrioid_Cancer/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 # 1. Gene Expression Data Availability is_gene_available = True # Series mentions "Microarray Expression" and "Gene expression profiling" # 2. Variable Availability and Data Type Conversion # 2.1 Data Availability trait_row = None # Only one unique value 'tissue: endometrioid adenocarcinoma', which is constant age_row = None # No age information available in sample characteristics gender_row = None # No gender information available in sample characteristics # 2.2 Data Type Conversion def convert_trait(value): """Convert trait values to binary (0/1)""" if value is None: return None value = str(value).split(':')[-1].strip().lower() if 'endometrioid' in value or 'adenocarcinoma' in value: return 1 else: return 0 def convert_age(value): """Convert age to continuous numeric values""" if value is None: return None try: value = str(value).split(':')[-1].strip() return float(value) except: return None def convert_gender(value): """Convert gender to binary (0=female, 1=male)""" if value is None: return None value = str(value).split(':')[-1].strip().lower() if 'female' in value or 'f' in value: return 0 elif 'male' in value or 'm' in value: return 1 else: return None # 3. Save Metadata is_trait_available = trait_row is not None save_cohort_info = 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 # Skipping this step since trait_row is None (no clinical data available) # 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 # Examine the gene identifiers from the previous step output gene_identifiers = ['1', '2', '3', '4', '5', '6', '7', '8', '9', '10', '11', '12', '13', '14', '15', '16', '17', '18', '19', '20'] # Check if these look like human gene symbols # Gene symbols are typically alphanumeric strings with letters, not just numbers # Examples: TP53, BRCA1, EGFR, MYC, etc. print("Sample gene identifiers:", gene_identifiers[:10]) # These are clearly numeric identifiers (as strings), not gene symbols # Gene symbols would contain letters and be more descriptive # These appear to be probe IDs or platform-specific identifiers 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 # 1. Identify mapping columns: 'ID' matches gene expression identifiers, 'HUGO' contains gene symbols prob_col = 'ID' gene_col = 'HUGO' # 2. Get gene mapping dataframe using the library function gene_mapping = get_gene_mapping(gene_annotation, prob_col, gene_col) # 3. Apply gene mapping to convert probe-level measurements to gene expression data gene_data = apply_gene_mapping(gene_data, gene_mapping) print(f"Gene expression data shape after mapping: {gene_data.shape}") print(f"First few gene symbols: {gene_data.index[:10].tolist()}") # Step 7: Data Normalization and Linking # 1. Normalize the obtained gene data with the 'normalize_gene_symbols_in_index' function from the library. normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) # 2. Since no clinical data is available (trait_row = None from Step 2), create empty clinical dataframe # and link only genetic data clinical_data_empty = pd.DataFrame() linked_data = normalized_gene_data.T # Transpose to have samples as rows # 3. Since no trait data is available, skip missing value handling for clinical features # Only handle missing values in genetic data linked_data = linked_data.fillna(linked_data.mean()) # 4. Since no trait data exists, the dataset is biased/unusable for associative studies # All samples have the same constant trait value (endometrioid adenocarcinoma) is_trait_biased = True unbiased_linked_data = linked_data # 5. Conduct quality check and save the cohort information is_usable = validate_and_save_cohort_info( is_final=True, cohort=cohort, info_path=json_path, is_gene_available=True, is_trait_available=False, # No usable trait data available is_biased=is_trait_biased, df=unbiased_linked_data, note="INFO: Dataset contains only constant trait values (all endometrioid adenocarcinoma), not suitable for associative studies" ) # 6. Since dataset is not usable, do not save the linked data file if is_usable: unbiased_linked_data.to_csv(out_data_file)