# Path Configuration from tools.preprocess import * # Processing context trait = "Cardiovascular_Disease" cohort = "GSE285666" # Input paths in_trait_dir = "../DATA/GEO/Cardiovascular_Disease" in_cohort_dir = "../DATA/GEO/Cardiovascular_Disease/GSE285666" # Output paths out_data_file = "./output/preprocess/1/Cardiovascular_Disease/GSE285666.csv" out_gene_data_file = "./output/preprocess/1/Cardiovascular_Disease/gene_data/GSE285666.csv" out_clinical_data_file = "./output/preprocess/1/Cardiovascular_Disease/clinical_data/GSE285666.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. Check gene expression data availability is_gene_available = True # Based on Affymetrix Exon 1.0 ST arrays, this dataset likely contains gene expression data. # 2. Determine data availability for trait, age, and gender # From the sample characteristics dictionary, we only have disease states labeled for Williams syndrome and controls. # This does not match our required trait "Cardiovascular_Disease." There's no mention of age or gender. trait_row = None age_row = None gender_row = None # 2.2 Define data type conversion functions (though they will not be used when row=None) def convert_trait(value: str) -> Optional[int]: return None # No trait data available def convert_age(value: str) -> Optional[float]: return None # No age data available def convert_gender(value: str) -> Optional[int]: return None # No gender data available # 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 is skipped because trait_row is None # STEP3 # 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]) # Based on the gene identifiers observed (e.g., '2315554', '2315633', etc.), they appear to be probe identifiers # rather than human gene symbols, so gene symbol mapping is required. 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. Identify the columns in our gene_annotation DataFrame that correspond to the probe ID (matching gene_data.index) # and the gene symbol. From the preview, 'ID' matches our probe identifiers, and 'gene_assignment' contains gene symbols. probe_col = 'ID' symbol_col = 'gene_assignment' # 2. Get the gene mapping dataframe mapping_df = get_gene_mapping(gene_annotation, probe_col, symbol_col) # 3. Convert probe-level measurements to gene expression data by applying the mapping 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.