# Path Configuration from tools.preprocess import * # Processing context trait = "Autoinflammatory_Disorders" cohort = "GSE80060" # Input paths in_trait_dir = "../DATA/GEO/Autoinflammatory_Disorders" in_cohort_dir = "../DATA/GEO/Autoinflammatory_Disorders/GSE80060" # Output paths out_data_file = "./output/z1/preprocess/Autoinflammatory_Disorders/GSE80060.csv" out_gene_data_file = "./output/z1/preprocess/Autoinflammatory_Disorders/gene_data/GSE80060.csv" out_clinical_data_file = "./output/z1/preprocess/Autoinflammatory_Disorders/clinical_data/GSE80060.csv" json_path = "./output/z1/preprocess/Autoinflammatory_Disorders/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 import os import re import pandas as pd # 1) Gene expression data availability is_gene_available = True # Title indicates "Gene expression data"; not miRNA/methylation # 2) Variable availability # From Sample Characteristics Dictionary: # 1: ['disease status: SJIA', 'disease status: Healthy'] -> maps to our trait (Autoinflammatory_Disorders) trait_row = 1 age_row = None # No age field found gender_row = None # No gender field found # 2.2) Converters def _after_colon(value: str) -> str: s = str(value) if ':' in s: s = s.split(':', 1)[1] return s.strip() def convert_trait(value): if pd.isna(value): return None v = _after_colon(value).lower() # Heuristics: SJIA is an autoinflammatory disease -> 1; Healthy/Control -> 0 if 'sjia' in v or ('patient' in v and 'healthy' not in v): return 1 if 'healthy' in v or 'control' in v or v == 'normal': return 0 return None def convert_age(value): if pd.isna(value): return None v = _after_colon(value).strip() if v == '' or v.lower() in {'na', 'n/a', 'nan', 'none', 'unknown'}: return None # Try direct float try: return float(v) except Exception: pass low = v.lower() m = re.search(r'(\d+(\.\d+)?)', low) if not m: return None num = float(m.group(1)) # Convert to years if units provided if 'month' in low or re.search(r'\bmo\b', low): return round(num / 12.0, 3) if 'week' in low or re.search(r'\bwk\b', low): return round(num / 52.0, 3) if 'day' in low or re.search(r'\bd\b', low): return round(num / 365.0, 3) return num # assume years def convert_gender(value): if pd.isna(value): return None v = _after_colon(value).strip().lower() if v in {'m', 'male'} or 'male' in v or 'man' in v or 'boy' in v: return 1 if v in {'f', 'female'} or 'female' in v or 'woman' in v or 'girl' in v: return 0 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 (only if trait_row is available) if trait_row is not None: selected_clinical_df = geo_select_clinical_features( clinical_df=clinical_data, trait=trait, trait_row=trait_row, convert_trait=convert_trait, age_row=age_row, convert_age=convert_age, gender_row=gender_row, convert_gender=convert_gender ) preview = preview_df(selected_clinical_df) print("Preview of selected clinical features:", preview) os.makedirs(os.path.dirname(out_clinical_data_file), exist_ok=True) selected_clinical_df.to_csv(out_clinical_data_file) # 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 print("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 # Identify the columns for probe IDs and gene symbols based on the annotation preview probe_col = 'ID' # matches probe identifiers like '1007_s_at' gene_symbol_col = 'Gene Symbol' # contains gene symbols (may include multiple per probe) # Build mapping dataframe mapping_df = get_gene_mapping(gene_annotation, prob_col=probe_col, gene_col=gene_symbol_col) # Apply mapping to convert probe-level data to gene-level expression gene_data = apply_gene_mapping(expression_df=gene_data, mapping_df=mapping_df) # Step 7: Data Normalization and Linking import os # 1. Normalize gene symbols and save gene expression data normalized_gene_data = normalize_gene_symbols_in_index(gene_data) os.makedirs(os.path.dirname(out_gene_data_file), exist_ok=True) normalized_gene_data.to_csv(out_gene_data_file) # 2. Link clinical and genetic data (use the correct variable from Step 2) linked_data = geo_link_clinical_genetic_data(selected_clinical_df, normalized_gene_data) # Derive availability flags based on current data state and cast to built-in bool is_gene_available = bool((normalized_gene_data.shape[0] > 0) and (normalized_gene_data.shape[1] > 0)) is_trait_available = bool((trait in linked_data.columns) and (linked_data[trait].notna().sum() > 0)) # 3. Handle missing values linked_data = handle_missing_values(linked_data, trait) # 4. Determine biases and remove biased demographic features is_trait_biased, unbiased_linked_data = judge_and_remove_biased_features(linked_data, trait) is_trait_biased = bool(is_trait_biased) # 5. Final quality validation and save cohort info covariate_cols = [trait, 'Age', 'Gender'] gene_cols_in_final = [c for c in unbiased_linked_data.columns if c not in covariate_cols] sample_count = int(len(unbiased_linked_data)) gene_count = int(len(gene_cols_in_final)) note = ( f"INFO: Normalized Affymetrix probe data to gene symbols using NCBI synonyms. " f"Clinical features available: trait only; Age/Gender not provided. " f"Post-QC samples: {sample_count}; genes: {gene_count}." ) is_usable = validate_and_save_cohort_info( is_final=True, cohort=cohort, info_path=json_path, is_gene_available=bool(is_gene_available), is_trait_available=bool(is_trait_available), is_biased=bool(is_trait_biased), df=unbiased_linked_data, note=note ) # 6. Save linked data if usable if is_usable: os.makedirs(os.path.dirname(out_data_file), exist_ok=True) unbiased_linked_data.to_csv(out_data_file) print(f"Saved processed cohort to {out_data_file}") print(f"Saved gene data to {out_gene_data_file}")