# Path Configuration from tools.preprocess import * # Processing context trait = "Breast_Cancer" cohort = "GSE208101" # Input paths in_trait_dir = "../DATA/GEO/Breast_Cancer" in_cohort_dir = "../DATA/GEO/Breast_Cancer/GSE208101" # Output paths out_data_file = "./output/preprocess/1/Breast_Cancer/GSE208101.csv" out_gene_data_file = "./output/preprocess/1/Breast_Cancer/gene_data/GSE208101.csv" out_clinical_data_file = "./output/preprocess/1/Breast_Cancer/clinical_data/GSE208101.csv" json_path = "./output/preprocess/1/Breast_Cancer/cohort_info.json" # STEP1 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) # 1) Gene Expression Data Availability # From the background info, it is clear this dataset uses a gene expression profiling platform (Clariom D), # so we consider gene expression data to be available. is_gene_available = True # 2) Variable Availability and Data Type Conversion # Based on the sample characteristics dictionary, all samples have "gender: female" (only one unique value), # "tissue: primary luminal breast cancer" (only one unique value), "disease state: luminal breast cancer" (one unique value), # and "loco-regional recurrence" with three categories (EARLY, INTERMEDIATE, LATE), which does not reflect the trait # "Breast_Cancer" vs. "Non-Cancer", but rather time-to-recurrence categories. Therefore, no key actually # provides a varying "Breast_Cancer" trait, and there is also no key for age. Thus, each variable is effectively unavailable. trait_row = None age_row = None gender_row = None # Define data conversion functions (they won't be used since all variables are unavailable), # but we provide them as placeholders to follow instructions. def convert_trait(val: str) -> int: # Placeholder: Not used, but implemented for completeness. # Suppose we parse after the colon, but since data is unavailable, return None. return None def convert_age(val: str) -> float: # Placeholder: Not used, but implemented for completeness. return None def convert_gender(val: str) -> int: # Placeholder: Not used, but implemented for completeness. return None # 3) Save metadata using initial filtering # Trait data availability depends on whether trait_row is None. is_trait_available = (trait_row is not None) is_usable = 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 # We only proceed if trait_row is not None. Otherwise, skip. if trait_row is not None: selected_clinical_df = geo_select_clinical_features( clinical_data, trait="Breast_Cancer", 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 clinical data:", preview_df(selected_clinical_df)) selected_clinical_df.to_csv(out_clinical_data_file, index=False) # 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]) # These identifiers (e.g., "TC0100006432.hg.1") are not standard HUGO gene symbols. # Therefore, gene mapping is required. 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)) # STEP6: Gene Identifier Mapping # 1) Decide which columns match the gene expression data ID and the gene symbol. # From our inspection, the "ID" column contains the probe IDs matching the gene_data index. # The "gene_assignment" column contains text from which we can extract gene symbols. # 2) Get a gene mapping dataframe using the library's get_gene_mapping function. gene_mapping_df = get_gene_mapping( annotation=gene_annotation, prob_col='ID', gene_col='gene_assignment' ) # 3) Apply the mapping to convert the probe-level expression data into gene-level data. gene_data = apply_gene_mapping(gene_data, gene_mapping_df) # To observe some information about the resulting gene_data, let's print its shape and a quick head. print("Mapped gene_data shape:", gene_data.shape) print("Head of the mapped gene_data:") print(gene_data.head()) # STEP7 import pandas as pd # 1. Normalize the obtained gene data using the NCBI Gene synonym database normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) # Since we determined earlier that trait data is not available (trait_row = None), # "selected_clinical_df" was never created. We therefore have no clinical data to link, # and the dataset is not usable for trait analysis. We'll handle final validation accordingly. # 2-4. Skip linking, missing-value handling, and bias checking because trait data is unavailable # Prepare a minimal placeholder DataFrame for final validation. placeholder_df = pd.DataFrame() # 5. Conduct final quality validation and save relevant information about the linked cohort data # Since trait data is unavailable, is_trait_available=False, the dataset won't be usable. # However, validate_and_save_cohort_info requires a boolean for is_biased when is_final=True. # We'll set is_biased=True (forcing the dataset to be considered not usable). 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, df=placeholder_df, note="Trait data not available; cannot link clinical and genetic data." ) # 6. If the dataset is usable (which, given no trait, it won't be), save the final linked data if is_usable: # Normally we would save the linked data, but here it will remain unavailable. pass