# Path Configuration from tools.preprocess import * # Processing context trait = "Endometriosis" cohort = "GSE111974" # Input paths in_trait_dir = "../DATA/GEO/Endometriosis" in_cohort_dir = "../DATA/GEO/Endometriosis/GSE111974" # Output paths out_data_file = "./output/preprocess/1/Endometriosis/GSE111974.csv" out_gene_data_file = "./output/preprocess/1/Endometriosis/gene_data/GSE111974.csv" out_clinical_data_file = "./output/preprocess/1/Endometriosis/clinical_data/GSE111974.csv" json_path = "./output/preprocess/1/Endometriosis/cohort_info.json" # STEP 1: Initial Data Loading # 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, prefixes_a=background_prefixes, prefixes_b=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) import pandas as pd import os import json from typing import Optional, Callable, Dict, Any # 1. Check gene expression data availability # Based on the series summary and overall design, this appears to be an RNA expression dataset. # So we set: is_gene_available = True # 2. Identify row indices for trait, age, and gender from the sample characteristics dictionary # The sample characteristics dictionary only has key 0 with "tissue: Endometrial tissue", # which is a constant value. There is no mention of "endometriosis" or any variation indicating # presence/absence of endometriosis. Therefore, trait data is unavailable. trait_row = None # Similarly, there is no mention of "age" or "gender" in the dictionary, so: age_row = None gender_row = None # 2.2 Define the conversion functions. Even though they won't be used (due to None rows), # we still define them to adhere to instructions. def convert_trait(x: str) -> Optional[int]: """ Convert the string to indicate presence/absence of endometriosis in binary form. Since the dataset does not contain trait info, return None. """ return None def convert_age(x: str) -> Optional[float]: """ Convert the string to a float representing age. Since the dataset does not contain this info, return None. """ return None def convert_gender(x: str) -> Optional[int]: """ Convert gender to binary (female=0, male=1). Since the dataset does not contain this info, return None. """ return None # 3. Initial filtering and saving metadata # Trait availability is determined by whether trait_row is None: is_trait_available = (trait_row is not None) # We call validate_and_save_cohort_info with is_final=False for initial filtering. 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, note="Initial filtering for GSE111974" ) # 4. Clinical Feature Extraction # Since trait_row is None, we skip extracting clinical features. # 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]) # Observing the gene identifiers, they appear to be microarray probe IDs (likely from Agilent arrays), # not standard human gene symbols, hence they require mapping. 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. From the annotation preview, the probe identifiers are in the 'ID' column, # and the gene symbols are in the 'GENE_SYMBOL' column. # 2. Create the gene mapping dataframe mapping_df = get_gene_mapping(gene_annotation, prob_col='ID', gene_col='GENE_SYMBOL') # 3. Convert probe-level measurements to gene-level expression gene_data = apply_gene_mapping(gene_data, mapping_df) # STEP 7 import pandas as pd # 1. Normalize the gene expression data to standard gene symbols. normalized_gene_data = normalize_gene_symbols_in_index(gene_data) normalized_gene_data.to_csv(out_gene_data_file) print("Normalized gene expression data saved to:", out_gene_data_file) # Since no trait data is available (trait_row=None in previous steps), # we must skip linking, missing-value handling, and bias checks that require trait data. # 2. Record that we have gene data but not trait data. We cannot perform final validation # for a trait-based study, so we do another "initial" metadata save (is_final=False). is_usable = validate_and_save_cohort_info( is_final=False, cohort=cohort, info_path=json_path, is_gene_available=True, # We do have gene expression is_trait_available=False, # No trait data note="No trait data; only gene data processed and saved." ) # 3. Since the dataset is not usable for trait-based analysis, do not produce a fully linked CSV. if is_usable: print("Unexpectedly marked usable, despite lacking trait data.") else: print("No trait data available. Dataset is not usable for trait-based analysis. No final data saved.")