# Path Configuration from tools.preprocess import * # Processing context trait = "Cystic_Fibrosis" cohort = "GSE53543" # Input paths in_trait_dir = "../DATA/GEO/Cystic_Fibrosis" in_cohort_dir = "../DATA/GEO/Cystic_Fibrosis/GSE53543" # Output paths out_data_file = "./output/preprocess/1/Cystic_Fibrosis/GSE53543.csv" out_gene_data_file = "./output/preprocess/1/Cystic_Fibrosis/gene_data/GSE53543.csv" out_clinical_data_file = "./output/preprocess/1/Cystic_Fibrosis/clinical_data/GSE53543.csv" json_path = "./output/preprocess/1/Cystic_Fibrosis/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 is_gene_available = True # Based on the background info, this dataset contains gene expression data # 2. Variable Availability # After examining the sample characteristics dictionary, we see: # - There is no row containing Cystic Fibrosis information, so trait_row = None # - There is no row containing age information, so age_row = None # - Row 1 contains gender information with two distinct values (Female, Male), so gender_row = 1 trait_row = None age_row = None gender_row = 1 # 2.2 Data Type Conversion Functions def convert_trait(x: str): """ Convert string to an appropriate trait value. Since we have no trait data, the function returns None for any input. """ return None def convert_age(x: str): """ Convert string to a continuous value for age. Since age data is not available in this dataset, the function returns None for any input. """ return None def convert_gender(x: str): """ Convert string to a binary value for gender: female -> 0, male -> 1. Any unknown token returns None. """ if not x: return None val = x.split(":", 1)[-1].strip().lower() if val == "female": return 0 elif val == "male": return 1 return None # 3. Save Metadata (Initial Filtering) # Trait data availability is determined by 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 # This step is skipped because 'trait_row' is None # (no trait data available to extract). # 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]) # Observed gene identifiers (e.g., "ILMN_1651229") are Illumina probe IDs, not standard human gene symbols. # They require mapping to official gene symbols. 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 the annotation dataframe that match the gene_expression data's probe IDs and gene symbols probe_col = "ID" # This column in 'gene_annotation' matches the probe IDs in 'gene_data' symbol_col = "Symbol" # This column in 'gene_annotation' holds the gene symbols # 2. Extract the mapping info from the annotation dataframe mapping_df = get_gene_mapping(gene_annotation, prob_col=probe_col, gene_col=symbol_col) # 3. Apply the gene mapping to convert probe-level data to gene-level data gene_data = apply_gene_mapping(gene_data, mapping_df) # STEP7 # Since trait_row = None, we have no trait data. Therefore, we cannot remove samples for a nonexistent trait, # nor perform trait-based bias checks. We will still normalize and link the available clinical data (gender only) # with gene data. Finally, we record that the dataset lacks trait data and is thus not fully usable. # 1. Define the selected clinical data (which has gender info but no trait info). selected_clinical_data = clinical_data # 2. Normalize the obtained gene expression data using synonym information and save to CSV. normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) # 3. Link the (gender-only) clinical data and gene data. linked_data = geo_link_clinical_genetic_data(selected_clinical_data, normalized_gene_data) # 4. We skip handle_missing_values() and bias checks because there's no trait column at all. # Attempting them would cause a KeyError on "Cystic_Fibrosis". # 5. Perform final validation, marking that no trait data is available. This dataset is not fully usable for # trait-based analyses, but we still record its metadata in the JSON file. 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=None, df=None, note="No trait data available. Only gender is present." ) # 6. Because the dataset lacks trait data, it won't be marked as fully usable, so we do not save any final linked CSV. # STEP8 # As determined, this dataset lacks a valid trait column ("Cystic_Fibrosis"), so we cannot run # trait-based missing value checks or bias assessments. We will still normalize and link # the data, then record that the dataset is not fully usable (no trait data). # 1. Normalize the obtained gene data normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) # 2. Link the clinical (gender-only) and genetic data # Assuming 'selected_clinical_data' is simply 'clinical_data' from our previous steps. selected_clinical_data = clinical_data linked_data = geo_link_clinical_genetic_data(selected_clinical_data, normalized_gene_data) # 3. Because there is no 'Cystic_Fibrosis' column, we skip handle_missing_values() and bias checks. # 4. Conduct the final quality validation and record metadata. # The trait is not available, so we pass `is_trait_available=False`. The function requires is_biased to be boolean. # We set it to False to fulfill the function's requirements and note that the dataset lacks trait-based analysis. 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=False, # Manually setting to False; no trait data => no trait bias check df=linked_data, note="No trait column found; cannot perform trait-based analysis. Only gender is present." ) # 5. If the dataset were usable for trait-based analysis, we would save the final linked CSV. # But since it's not, we skip saving to `out_data_file`. if is_usable: linked_data.to_csv(out_data_file)