# Path Configuration from tools.preprocess import * # Processing context trait = "Cardiovascular_Disease" cohort = "GSE276839" # Input paths in_trait_dir = "../DATA/GEO/Cardiovascular_Disease" in_cohort_dir = "../DATA/GEO/Cardiovascular_Disease/GSE276839" # Output paths out_data_file = "./output/preprocess/1/Cardiovascular_Disease/GSE276839.csv" out_gene_data_file = "./output/preprocess/1/Cardiovascular_Disease/gene_data/GSE276839.csv" out_clinical_data_file = "./output/preprocess/1/Cardiovascular_Disease/clinical_data/GSE276839.csv" json_path = "./output/preprocess/1/Cardiovascular_Disease/cohort_info.json" # STEP1 from tools.preprocess import * # 1. Attempt to identify the paths to the SOFT file and the matrix file try: soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir) except AssertionError: print("[WARNING] Could not find the expected '.soft' or '.matrix' files in the directory.") soft_file, matrix_file = None, None if soft_file is None or matrix_file is None: print("[ERROR] Required GEO files are missing. Please check file names in the cohort directory.") else: # 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("\nSample Characteristics Dictionary:") print(sample_characteristics_dict) # 1. Gene Expression Data Availability is_gene_available = True # Based on the series summary describing "Gene expression ..." # 2. Variable Availability and Data Type Conversion trait_row = None # Data for "Cardiovascular_Disease" does not vary; it's effectively constant in this cohort. age_row = 0 # The sample characteristics dictionary key 0 maps to various "age group" values. gender_row = None # No gender information is provided. def convert_trait(value: str) -> int: """ Convert trait value to a binary representation: 1 for disease, 0 for no disease. Since the dataset provides no varying disease-related info, we'll return None. """ return None def convert_age(value: str) -> Optional[float]: """ Convert the 'age group' string into an approximate continuous numeric value. Example mapping: - Neonate -> 0.0 - Infant -> 0.5 - Toddler/Pre School -> 2.5 - School Age -> 7.0 - Adolescent/Young Adult -> 17.0 If the value is unknown, return None. """ parts = value.split(':', 1) if len(parts) == 2: raw_val = parts[1].strip().lower() else: raw_val = value.strip().lower() if raw_val in ["neonate"]: return 0.0 elif raw_val in ["infant"]: return 0.5 elif raw_val in ["toddler/pre school", "toddler/ pre school"]: return 2.5 elif raw_val in ["school age"]: return 7.0 elif raw_val in ["adolescent/young adult"]: return 17.0 else: return None def convert_gender(value: str) -> Optional[int]: """ Convert gender value to binary: 0 for female, 1 for male. Since no gender data is provided in this dataset, we'll return None. """ return None # 3. Save Metadata (initial filtering) 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 # Skip this step because trait_row is None (no usable trait data). # STEP3 # Attempt to read gene expression data; if the library function yields an empty DataFrame, # try re-reading without ignoring lines that start with '!' (because sometimes GEO data may # place actual expression rows under lines that begin with '!'). gene_data = get_genetic_data(matrix_file) if gene_data.empty: print("[WARNING] The gene_data is empty. Attempting alternative loading without treating '!' as comments.") import gzip # Locate the marker line first skip_rows = 0 with gzip.open(matrix_file, 'rt') as file: for i, line in enumerate(file): if "!series_matrix_table_begin" in line: skip_rows = i + 1 break # Read the data again, this time not treating '!' as comment gene_data = pd.read_csv( matrix_file, compression="gzip", skiprows=skip_rows, delimiter="\t", on_bad_lines="skip" ) gene_data = gene_data.rename(columns={"ID_REF": "ID"}).astype({"ID": "str"}) gene_data.set_index("ID", inplace=True) # Print the first 20 row IDs to confirm data structure print(gene_data.index[:20]) # The identifiers (e.g., "TC0100006587.hg.1") do not match standard human gene symbols. # Therefore, they need to be mapped to known gene symbols. print("They are not standard human gene symbols.") print("requires_gene_mapping = True") # STEP5 # 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: Gene Identifier Mapping # 1. Decide which columns in the gene annotation dataframe correspond to the gene expression data's probe identifiers # and which contain the text from which we can extract gene symbols. # From the preview, the "ID" column matches the gene expression probe IDs, and "SPOT_ID.1" contains the # annotations we can parse for gene symbols. # 2. Get a gene mapping dataframe from the gene annotation. mapping_df = get_gene_mapping(gene_annotation, prob_col="ID", gene_col="SPOT_ID.1") # 3. Convert probe-level measurements to gene-level expression data. gene_data = apply_gene_mapping(gene_data, mapping_df) import os import pandas as pd # STEP7: Data Normalization and Linking # 1) Normalize the gene symbols in the previously obtained gene_data normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) # 2) Load clinical data only if it exists and is non-empty if os.path.exists(out_clinical_data_file) and os.path.getsize(out_clinical_data_file) > 0: # Read the file clinical_temp = pd.read_csv(out_clinical_data_file) # Adjust row index to label the trait, age, and gender properly if clinical_temp.shape[0] == 3: clinical_temp.index = [trait, "Age", "Gender"] elif clinical_temp.shape[0] == 2: clinical_temp.index = [trait, "Gender"] elif clinical_temp.shape[0] == 1: clinical_temp.index = [trait] # 2) Link the clinical and normalized genetic data linked_data = geo_link_clinical_genetic_data(clinical_temp, normalized_gene_data) # 3) Handle missing values linked_data = handle_missing_values(linked_data, trait) # 4) Check for severe bias in the trait; remove biased demographic features if present trait_biased, linked_data = judge_and_remove_biased_features(linked_data, trait) # 5) Final quality validation and save metadata 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=trait_biased, df=linked_data, note=f"Final check on {cohort} with {trait}." ) # 6) If the linked data is usable, save it if is_usable: linked_data.to_csv(out_data_file) else: # If no valid clinical data file is found, finalize metadata indicating trait unavailability is_usable = validate_and_save_cohort_info( is_final=True, cohort=cohort, info_path=json_path, is_gene_available=True, is_trait_available=False, is_biased=True, # Force a fallback so that it's flagged as unusable df=pd.DataFrame(), note=f"No trait data found for {cohort}, final metadata recorded." ) # Per instructions, do not save a final linked data file when trait data is absent.