File size: 5,632 Bytes
012bb62 |
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 |
# Path Configuration
from tools.preprocess import *
# Processing context
trait = "Sickle_Cell_Anemia"
cohort = "GSE84633"
# Input paths
in_trait_dir = "../DATA/GEO/Sickle_Cell_Anemia"
in_cohort_dir = "../DATA/GEO/Sickle_Cell_Anemia/GSE84633"
# Output paths
out_data_file = "./output/preprocess/3/Sickle_Cell_Anemia/GSE84633.csv"
out_gene_data_file = "./output/preprocess/3/Sickle_Cell_Anemia/gene_data/GSE84633.csv"
out_clinical_data_file = "./output/preprocess/3/Sickle_Cell_Anemia/clinical_data/GSE84633.csv"
json_path = "./output/preprocess/3/Sickle_Cell_Anemia/cohort_info.json"
# Get file paths
soft_file_path, matrix_file_path = geo_get_relevant_filepaths(in_cohort_dir)
# Get background info and clinical data
background_info, clinical_data = get_background_and_clinical_data(matrix_file_path)
print("Background Information:")
print(background_info)
print("\nSample Characteristics:")
# Get dictionary of unique values per row
unique_values_dict = get_unique_values_by_row(clinical_data)
for row, values in unique_values_dict.items():
print(f"\n{row}:")
print(values)
# 1. Gene Expression Data
is_gene_available = True # Study title indicates gene expression data from PBMCs
# 2. Variable Availability and Conversion
# Trait: Available from disease field
trait_row = 2 # Key for disease status
def convert_trait(val):
if val is None:
return None
val = val.split(': ')[-1].lower()
if 'sickle cell disease' in val:
return 1
return None
# Age: Not available
age_row = None
convert_age = None
# Gender: Not available
gender_row = None
convert_gender = None
# 3. Save metadata
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. Extract clinical features
if trait_row is not None:
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
)
print("Preview of clinical data:")
print(preview_df(clinical_df))
# Save clinical data
clinical_df.to_csv(out_clinical_data_file)
# Get gene expression data from matrix file
genetic_data = get_genetic_data(matrix_file_path)
# Examine data structure
print("Data structure and head:")
print(genetic_data.head())
print("\nShape:", genetic_data.shape)
print("\nFirst 20 row IDs (gene/probe identifiers):")
print(list(genetic_data.index)[:20])
# Get a few column names to verify sample IDs
print("\nFirst 5 column names:")
print(list(genetic_data.columns)[:5])
# The identifiers appear to be Illumina probe IDs starting with '23'
# These are not human gene symbols and need to be mapped to official gene symbols
requires_gene_mapping = True
# Extract gene annotation data
gene_annotation = get_gene_annotation(soft_file_path)
# Preview column names and values from annotation dataframe
print("Gene annotation DataFrame preview:")
print(preview_df(gene_annotation))
# Extract gene mapping info
# 'ID' column matches probe IDs in expression data
# 'gene_assignment' contains gene symbols in format "RefSeq // GeneSymbol // Description"
mapping_df = get_gene_mapping(gene_annotation, prob_col='ID', gene_col='gene_assignment')
# Extract standard gene symbols
mapping_df['Gene'] = mapping_df['Gene'].apply(lambda x: x.split('//')[1].strip() if isinstance(x, str) and '//' in x else None)
# Apply mapping to convert probe-level data to gene-level data
gene_data = apply_gene_mapping(genetic_data, mapping_df)
# Preview the mapped gene data
print("\nGene expression data after mapping:")
print("Shape:", gene_data.shape)
print("\nFirst few gene symbols:")
print(list(gene_data.index)[:10])
print("\nSample of expression values:")
print(gene_data.head())
# 1. Normalize gene symbols in gene expression data
gene_data = normalize_gene_symbols_in_index(gene_data)
os.makedirs(os.path.dirname(out_gene_data_file), exist_ok=True)
gene_data.to_csv(out_gene_data_file)
print("\nGene data shape (normalized gene-level):", gene_data.shape)
# Load clinical data previously processed
selected_clinical_df = pd.read_csv(out_clinical_data_file, index_col=0)
print("\nClinical data shape:", selected_clinical_df.shape)
# 2. Link clinical and genetic data using normalized gene-level data
linked_data = geo_link_clinical_genetic_data(selected_clinical_df, gene_data)
print("\nLinked data shape:", linked_data.shape)
# 3. Handle missing values systematically
if trait in linked_data.columns:
linked_data = handle_missing_values(linked_data, trait)
# 4. Check for bias in trait and demographic features
trait_biased, linked_data = judge_and_remove_biased_features(linked_data, trait)
# 5. Final validation and information saving
note = "Data was successfully preprocessed from probe-level to gene-level expression using gene symbol normalization with NCBI Gene database."
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=linked_data,
note=note
)
# 6. Save linked data only if usable and not biased
if is_usable and not trait_biased:
os.makedirs(os.path.dirname(out_data_file), exist_ok=True)
linked_data.to_csv(out_data_file) |