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# Path Configuration
from tools.preprocess import *
# Processing context
trait = "Epilepsy"
cohort = "GSE143272"
# Input paths
in_trait_dir = "../DATA/GEO/Epilepsy"
in_cohort_dir = "../DATA/GEO/Epilepsy/GSE143272"
# Output paths
out_data_file = "./output/preprocess/1/Epilepsy/GSE143272.csv"
out_gene_data_file = "./output/preprocess/1/Epilepsy/gene_data/GSE143272.csv"
out_clinical_data_file = "./output/preprocess/1/Epilepsy/clinical_data/GSE143272.csv"
json_path = "./output/preprocess/1/Epilepsy/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)
# Step 1: Determine if gene expression data is available
is_gene_available = True # Based on the series description indicating mRNA gene expression
# Step 2: Identify row indices and define data type conversion functions
# 2.1 Data Availability (indices in the sample characteristics)
trait_row = 2 # "epilepsy type: ..." includes multiple values (healthy control denoted by '-') vs. different epilepsy types
age_row = 0 # "age (in years): ..."
gender_row = 1 # "Sex: Female" / "Sex: Male"
# 2.2 Data Type Conversions
def convert_trait(x: str) -> int:
# Extract the substring after the first colon
parts = x.split(':', 1)
if len(parts) < 2:
return None
val = parts[1].strip().lower()
# '-' indicates healthy control => 0
# otherwise epileptic => 1
if val == '-':
return 0
else:
return 1
def convert_age(x: str) -> Optional[float]:
parts = x.split(':', 1)
if len(parts) < 2:
return None
val = parts[1].strip()
try:
return float(val)
except ValueError:
return None
def convert_gender(x: str) -> Optional[int]:
parts = x.split(':', 1)
if len(parts) < 2:
return None
val = parts[1].strip().lower()
if val == 'male':
return 1
elif val == 'female':
return 0
else:
return None
# Step 3: Conduct initial metadata filtering and save
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
)
# Step 4: Clinical Feature Extraction (only if trait data is available)
if trait_row is not None:
selected_clinical = 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
)
clinical_preview = preview_df(selected_clinical)
selected_clinical.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])
print("These are Illumina microarray probe IDs, not standard human gene symbols.\nrequires_gene_mapping = True")
# STEP5
import pandas as pd
import io
# 1. Extract the lines that do NOT start with '^', '!', or '#', but do NOT parse them into a DataFrame yet.
annotation_text, _ = filter_content_by_prefix(
source=soft_file,
prefixes_a=['^', '!', '#'],
unselect=True,
source_type='file',
return_df_a=False,
return_df_b=False
)
# 2. Manually parse the filtered text into a DataFrame, specifying engine="python" to avoid buffer overflow issues.
gene_annotation = pd.read_csv(
io.StringIO(annotation_text),
delimiter='\t',
on_bad_lines='skip',
engine='python'
)
print("Gene annotation preview:")
print(preview_df(gene_annotation))
# STEP: Gene Identifier Mapping
# 1. Determine which columns match the probe identifiers and gene symbols
# From the annotation preview, the 'ID' column holds ILMN probe IDs matching gene_data.index
# and the 'Symbol' column holds gene symbols.
# 2. Create a mapping dataframe
mapping_df = get_gene_mapping(gene_annotation, prob_col='ID', gene_col='Symbol')
# 3. Convert probe-level measurements to gene-level data
gene_data = apply_gene_mapping(gene_data, mapping_df)
import os
import pandas as pd
# STEP7
# 1) Normalize gene symbols and save
normalized_gene_data = normalize_gene_symbols_in_index(gene_data)
normalized_gene_data.to_csv(out_gene_data_file)
# Check whether we actually have a clinical CSV file (i.e., trait data) from Step 2
if os.path.exists(out_clinical_data_file):
# 2) Link the clinical and gene expression data
# Reload the clinical data. It has 3 rows (trait, Age, Gender) and columns for samples.
selected_clinical_df = pd.read_csv(out_clinical_data_file, header=0)
# Force the row index to match [trait, 'Age', 'Gender'] so geo_link_clinical_genetic_data works correctly.
selected_clinical_df.index = [trait, "Age", "Gender"]
linked_data = geo_link_clinical_genetic_data(selected_clinical_df, normalized_gene_data)
# 3) Handle missing values
final_data = handle_missing_values(linked_data, trait_col=trait)
# 4) Evaluate bias in the trait (and remove biased demographics if any)
trait_biased, final_data = judge_and_remove_biased_features(final_data, trait)
# 5) Final validation
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=final_data,
note="Trait data successfully extracted; row index manually set in Step 7."
)
# 6) If the dataset is usable, save
if is_usable:
final_data.to_csv(out_data_file)
else:
# If the clinical file does not exist, the trait is unavailable
empty_df = pd.DataFrame()
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=empty_df,
note="No trait data was found; linking and final dataset output are skipped."
)