{ "cells": [ { "cell_type": "code", "execution_count": 1, "id": "d0569e62", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:33.304790Z", "iopub.status.busy": "2025-03-25T08:40:33.304384Z", "iopub.status.idle": "2025-03-25T08:40:33.471695Z", "shell.execute_reply": "2025-03-25T08:40:33.471372Z" } }, "outputs": [], "source": [ "import sys\n", "import os\n", "sys.path.append(os.path.abspath(os.path.join(os.getcwd(), '../..')))\n", "\n", "# Path Configuration\n", "from tools.preprocess import *\n", "\n", "# Processing context\n", "trait = \"Eczema\"\n", "cohort = \"GSE123088\"\n", "\n", "# Input paths\n", "in_trait_dir = \"../../input/GEO/Eczema\"\n", "in_cohort_dir = \"../../input/GEO/Eczema/GSE123088\"\n", "\n", "# Output paths\n", "out_data_file = \"../../output/preprocess/Eczema/GSE123088.csv\"\n", "out_gene_data_file = \"../../output/preprocess/Eczema/gene_data/GSE123088.csv\"\n", "out_clinical_data_file = \"../../output/preprocess/Eczema/clinical_data/GSE123088.csv\"\n", "json_path = \"../../output/preprocess/Eczema/cohort_info.json\"\n" ] }, { "cell_type": "markdown", "id": "0bdd2df7", "metadata": {}, "source": [ "### Step 1: Initial Data Loading" ] }, { "cell_type": "code", "execution_count": 2, "id": "ff77bcd7", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:33.473107Z", "iopub.status.busy": "2025-03-25T08:40:33.472959Z", "iopub.status.idle": "2025-03-25T08:40:33.747524Z", "shell.execute_reply": "2025-03-25T08:40:33.747184Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "Background Information:\n", "!Series_title\t\"A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases\"\n", "!Series_summary\t\"This SuperSeries is composed of the SubSeries listed below.\"\n", "!Series_overall_design\t\"Refer to individual Series\"\n", "Sample Characteristics Dictionary:\n", "{0: ['cell type: CD4+ T cells'], 1: ['primary diagnosis: ASTHMA', 'primary diagnosis: ATHEROSCLEROSIS', 'primary diagnosis: BREAST_CANCER', 'primary diagnosis: CHRONIC_LYMPHOCYTIC_LEUKEMIA', 'primary diagnosis: CROHN_DISEASE', 'primary diagnosis: ATOPIC_ECZEMA', 'primary diagnosis: HEALTHY_CONTROL', 'primary diagnosis: INFLUENZA', 'primary diagnosis: OBESITY', 'primary diagnosis: PSORIASIS', 'primary diagnosis: SEASONAL_ALLERGIC_RHINITIS', 'primary diagnosis: TYPE_1_DIABETES', 'primary diagnosis: ACUTE_TONSILLITIS', 'primary diagnosis: ULCERATIVE_COLITIS', 'primary diagnosis: Breast cancer', 'primary diagnosis: Control'], 2: ['Sex: Male', 'diagnosis2: ATOPIC_ECZEMA', 'Sex: Female', 'diagnosis2: ATHEROSCLEROSIS', 'diagnosis2: ASTHMA_OBESITY', 'diagnosis2: ASTHMA', 'diagnosis2: ASTMHA_SEASONAL_ALLERGIC_RHINITIS', 'diagnosis2: OBESITY'], 3: ['age: 56', 'Sex: Male', 'age: 20', 'age: 51', 'age: 37', 'age: 61', 'age: 31', 'age: 41', 'age: 80', 'age: 53', 'age: 73', 'age: 60', 'age: 76', 'age: 77', 'age: 74', 'age: 69', 'age: 81', 'age: 70', 'age: 82', 'age: 67', 'age: 78', 'age: 72', 'age: 66', 'age: 36', 'age: 45', 'age: 65', 'age: 48', 'age: 50', 'age: 24', 'age: 42'], 4: [nan, 'age: 63', 'age: 74', 'age: 49', 'age: 60', 'age: 68', 'age: 38', 'age: 16', 'age: 12', 'age: 27']}\n" ] } ], "source": [ "from tools.preprocess import *\n", "# 1. Identify the paths to the SOFT file and the matrix file\n", "soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n", "\n", "# 2. Read the matrix file to obtain background information and sample characteristics data\n", "background_prefixes = ['!Series_title', '!Series_summary', '!Series_overall_design']\n", "clinical_prefixes = ['!Sample_geo_accession', '!Sample_characteristics_ch1']\n", "background_info, clinical_data = get_background_and_clinical_data(matrix_file, background_prefixes, clinical_prefixes)\n", "\n", "# 3. Obtain the sample characteristics dictionary from the clinical dataframe\n", "sample_characteristics_dict = get_unique_values_by_row(clinical_data)\n", "\n", "# 4. Explicitly print out all the background information and the sample characteristics dictionary\n", "print(\"Background Information:\")\n", "print(background_info)\n", "print(\"Sample Characteristics Dictionary:\")\n", "print(sample_characteristics_dict)\n" ] }, { "cell_type": "markdown", "id": "6e5170a7", "metadata": {}, "source": [ "### Step 2: Dataset Analysis and Clinical Feature Extraction" ] }, { "cell_type": "code", "execution_count": 3, "id": "42ed76ba", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:33.748684Z", "iopub.status.busy": "2025-03-25T08:40:33.748580Z", "iopub.status.idle": "2025-03-25T08:40:33.773690Z", "shell.execute_reply": "2025-03-25T08:40:33.773407Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "Preview of clinical features:\n", "{'GSM3494884': [nan, 56.0, 1.0], 'GSM3494885': [nan, nan, nan], 'GSM3494886': [nan, 20.0, 0.0], 'GSM3494887': [nan, 51.0, 0.0], 'GSM3494888': [nan, 37.0, 1.0], 'GSM3494889': [nan, 61.0, 1.0], 'GSM3494890': [nan, nan, nan], 'GSM3494891': [nan, 31.0, 1.0], 'GSM3494892': [nan, 56.0, 0.0], 'GSM3494893': [nan, 41.0, 0.0], 'GSM3494894': [nan, 61.0, 0.0], 'GSM3494895': [nan, nan, nan], 'GSM3494896': [nan, 80.0, 1.0], 'GSM3494897': [nan, 53.0, 1.0], 'GSM3494898': [nan, 61.0, 1.0], 'GSM3494899': [nan, 73.0, 1.0], 'GSM3494900': [nan, 60.0, 1.0], 'GSM3494901': [nan, 76.0, 1.0], 'GSM3494902': [nan, 77.0, 0.0], 'GSM3494903': [nan, 74.0, 0.0], 'GSM3494904': [nan, 69.0, 1.0], 'GSM3494905': [nan, 77.0, 0.0], 'GSM3494906': [nan, 81.0, 0.0], 'GSM3494907': [nan, 70.0, 0.0], 'GSM3494908': [nan, 82.0, 0.0], 'GSM3494909': [nan, 69.0, 0.0], 'GSM3494910': [nan, 82.0, 0.0], 'GSM3494911': [nan, 67.0, 0.0], 'GSM3494912': [nan, 67.0, 0.0], 'GSM3494913': [nan, 78.0, 0.0], 'GSM3494914': [nan, 67.0, 0.0], 'GSM3494915': [nan, 74.0, 1.0], 'GSM3494916': [nan, nan, nan], 'GSM3494917': [nan, 51.0, 1.0], 'GSM3494918': [nan, 72.0, 1.0], 'GSM3494919': [nan, 66.0, 1.0], 'GSM3494920': [nan, 80.0, 0.0], 'GSM3494921': [nan, 36.0, 1.0], 'GSM3494922': [nan, 67.0, 0.0], 'GSM3494923': [nan, 31.0, 0.0], 'GSM3494924': [nan, 31.0, 0.0], 'GSM3494925': [nan, 45.0, 0.0], 'GSM3494926': [nan, 56.0, 0.0], 'GSM3494927': [nan, 65.0, 0.0], 'GSM3494928': [nan, 53.0, 0.0], 'GSM3494929': [nan, 48.0, 0.0], 'GSM3494930': [nan, 50.0, 0.0], 'GSM3494931': [nan, 76.0, 1.0], 'GSM3494932': [1.0, nan, nan], 'GSM3494933': [1.0, 24.0, 0.0], 'GSM3494934': [1.0, 42.0, 0.0], 'GSM3494935': [1.0, 76.0, 1.0], 'GSM3494936': [1.0, 22.0, 1.0], 'GSM3494937': [1.0, nan, nan], 'GSM3494938': [1.0, 23.0, 0.0], 'GSM3494939': [0.0, 34.0, 1.0], 'GSM3494940': [0.0, 43.0, 1.0], 'GSM3494941': [0.0, 47.0, 1.0], 'GSM3494942': [0.0, 24.0, 0.0], 'GSM3494943': [0.0, 55.0, 1.0], 'GSM3494944': [0.0, 48.0, 1.0], 'GSM3494945': [0.0, 58.0, 1.0], 'GSM3494946': [0.0, 30.0, 0.0], 'GSM3494947': [0.0, 28.0, 1.0], 'GSM3494948': [0.0, 41.0, 0.0], 'GSM3494949': [0.0, 63.0, 1.0], 'GSM3494950': [0.0, 55.0, 0.0], 'GSM3494951': [0.0, 55.0, 0.0], 'GSM3494952': [0.0, 67.0, 1.0], 'GSM3494953': [0.0, 47.0, 0.0], 'GSM3494954': [0.0, 46.0, 0.0], 'GSM3494955': [0.0, 49.0, 1.0], 'GSM3494956': [0.0, 23.0, 1.0], 'GSM3494957': [0.0, 68.0, 1.0], 'GSM3494958': [0.0, 39.0, 1.0], 'GSM3494959': [0.0, 24.0, 1.0], 'GSM3494960': [0.0, 36.0, 0.0], 'GSM3494961': [0.0, 58.0, 0.0], 'GSM3494962': [0.0, 38.0, 0.0], 'GSM3494963': [0.0, 27.0, 0.0], 'GSM3494964': [0.0, 67.0, 0.0], 'GSM3494965': [0.0, 61.0, 1.0], 'GSM3494966': [0.0, 69.0, 1.0], 'GSM3494967': [0.0, 63.0, 1.0], 'GSM3494968': [0.0, 60.0, 0.0], 'GSM3494969': [0.0, 17.0, 1.0], 'GSM3494970': [0.0, 10.0, 0.0], 'GSM3494971': [0.0, 9.0, 1.0], 'GSM3494972': [0.0, 13.0, 0.0], 'GSM3494973': [0.0, 10.0, 1.0], 'GSM3494974': [0.0, 13.0, 0.0], 'GSM3494975': [0.0, 15.0, 1.0], 'GSM3494976': [0.0, 12.0, 1.0], 'GSM3494977': [0.0, 13.0, 1.0], 'GSM3494978': [nan, 81.0, 0.0], 'GSM3494979': [nan, 94.0, 0.0], 'GSM3494980': [nan, 51.0, 1.0], 'GSM3494981': [nan, 40.0, 1.0], 'GSM3494982': [nan, nan, nan], 'GSM3494983': [nan, 97.0, 1.0], 'GSM3494984': [nan, 23.0, 1.0], 'GSM3494985': [nan, 93.0, 0.0], 'GSM3494986': [nan, 58.0, 1.0], 'GSM3494987': [nan, 28.0, 0.0], 'GSM3494988': [nan, 54.0, 1.0], 'GSM3494989': [nan, 15.0, 1.0], 'GSM3494990': [nan, 8.0, 1.0], 'GSM3494991': [nan, 11.0, 1.0], 'GSM3494992': [nan, 12.0, 1.0], 'GSM3494993': [nan, 8.0, 0.0], 'GSM3494994': [nan, 14.0, 1.0], 'GSM3494995': [nan, 8.0, 0.0], 'GSM3494996': [nan, 10.0, 1.0], 'GSM3494997': [nan, 14.0, 1.0], 'GSM3494998': [nan, 13.0, 1.0], 'GSM3494999': [nan, 40.0, 0.0], 'GSM3495000': [nan, 52.0, 0.0], 'GSM3495001': [nan, 42.0, 0.0], 'GSM3495002': [nan, 29.0, 0.0], 'GSM3495003': [nan, 43.0, 0.0], 'GSM3495004': [nan, 41.0, 0.0], 'GSM3495005': [nan, 54.0, 1.0], 'GSM3495006': [nan, 42.0, 1.0], 'GSM3495007': [nan, 49.0, 1.0], 'GSM3495008': [nan, 45.0, 0.0], 'GSM3495009': [nan, 56.0, 1.0], 'GSM3495010': [nan, 64.0, 0.0], 'GSM3495011': [nan, 71.0, 0.0], 'GSM3495012': [nan, 48.0, 0.0], 'GSM3495013': [nan, 20.0, 1.0], 'GSM3495014': [nan, 53.0, 0.0], 'GSM3495015': [nan, 32.0, 0.0], 'GSM3495016': [nan, 26.0, 0.0], 'GSM3495017': [nan, 28.0, 0.0], 'GSM3495018': [nan, 47.0, 0.0], 'GSM3495019': [nan, 24.0, 0.0], 'GSM3495020': [nan, 48.0, 0.0], 'GSM3495021': [nan, nan, nan], 'GSM3495022': [nan, 19.0, 0.0], 'GSM3495023': [nan, 41.0, 0.0], 'GSM3495024': [nan, 38.0, 0.0], 'GSM3495025': [nan, nan, nan], 'GSM3495026': [nan, 15.0, 0.0], 'GSM3495027': [nan, 12.0, 1.0], 'GSM3495028': [nan, 13.0, 0.0], 'GSM3495029': [nan, nan, nan], 'GSM3495030': [nan, 11.0, 1.0], 'GSM3495031': [nan, nan, nan], 'GSM3495032': [nan, 16.0, 1.0], 'GSM3495033': [nan, 11.0, 1.0], 'GSM3495034': [nan, nan, nan], 'GSM3495035': [nan, 35.0, 0.0], 'GSM3495036': [nan, 26.0, 0.0], 'GSM3495037': [nan, 39.0, 0.0], 'GSM3495038': [nan, 46.0, 0.0], 'GSM3495039': [nan, 42.0, 0.0], 'GSM3495040': [nan, 20.0, 1.0], 'GSM3495041': [nan, 69.0, 1.0], 'GSM3495042': [nan, 69.0, 0.0], 'GSM3495043': [nan, 47.0, 1.0], 'GSM3495044': [nan, 47.0, 1.0], 'GSM3495045': [nan, 56.0, 0.0], 'GSM3495046': [nan, 54.0, 0.0], 'GSM3495047': [nan, 53.0, 0.0], 'GSM3495048': [nan, 50.0, 0.0], 'GSM3495049': [nan, 22.0, 1.0], 'GSM3495050': [nan, 62.0, 0.0], 'GSM3495051': [nan, 74.0, 0.0], 'GSM3495052': [0.0, 57.0, 0.0], 'GSM3495053': [0.0, 47.0, 0.0], 'GSM3495054': [nan, 70.0, 0.0], 'GSM3495055': [nan, 50.0, 0.0], 'GSM3495056': [0.0, 52.0, 0.0], 'GSM3495057': [nan, 43.0, 0.0], 'GSM3495058': [0.0, 57.0, 0.0], 'GSM3495059': [nan, 53.0, 0.0], 'GSM3495060': [nan, 70.0, 0.0], 'GSM3495061': [0.0, 41.0, 0.0], 'GSM3495062': [nan, 61.0, 0.0], 'GSM3495063': [0.0, 39.0, 0.0], 'GSM3495064': [0.0, 58.0, 0.0], 'GSM3495065': [nan, 55.0, 0.0], 'GSM3495066': [nan, 63.0, 0.0], 'GSM3495067': [0.0, 60.0, 0.0], 'GSM3495068': [nan, 43.0, 0.0], 'GSM3495069': [nan, 68.0, 0.0], 'GSM3495070': [nan, 67.0, 0.0], 'GSM3495071': [nan, 50.0, 0.0], 'GSM3495072': [nan, 67.0, 0.0], 'GSM3495073': [0.0, 51.0, 0.0], 'GSM3495074': [0.0, 59.0, 0.0], 'GSM3495075': [0.0, 44.0, 0.0], 'GSM3495076': [nan, 35.0, 0.0], 'GSM3495077': [nan, 83.0, 0.0], 'GSM3495078': [nan, 78.0, 0.0], 'GSM3495079': [nan, 88.0, 0.0], 'GSM3495080': [nan, 41.0, 0.0], 'GSM3495081': [0.0, 60.0, 0.0], 'GSM3495082': [nan, 72.0, 0.0], 'GSM3495083': [nan, 53.0, 0.0]}\n", "Clinical data saved to ../../output/preprocess/Eczema/clinical_data/GSE123088.csv\n" ] } ], "source": [ "# 1. Determine gene expression data availability\n", "# This dataset appears to be a SuperSeries combining several studies\n", "# Since it mentions CD4+ T cells and includes various diagnoses, it likely contains gene expression data\n", "is_gene_available = True\n", "\n", "# 2.1 Data Availability\n", "# Trait (Eczema) appears in row 1 as \"primary diagnosis: ATOPIC_ECZEMA\"\n", "trait_row = 1\n", "\n", "# Age appears in row 3 and continues in row 4\n", "age_row = 3\n", "\n", "# Gender/Sex appears in rows 2 and 3\n", "gender_row = 2\n", "\n", "# 2.2 Data Type Conversion Functions\n", "def convert_trait(value):\n", " if pd.isna(value):\n", " return None\n", " \n", " # Extract value after colon\n", " if \":\" in value:\n", " value = value.split(\":\", 1)[1].strip()\n", " \n", " # Check if Eczema is present in any form\n", " if \"ATOPIC_ECZEMA\" in value:\n", " return 1\n", " elif \"HEALTHY_CONTROL\" in value or \"Control\" in value:\n", " return 0\n", " else:\n", " return None\n", "\n", "def convert_age(value):\n", " if pd.isna(value):\n", " return None\n", " \n", " # Extract value after colon\n", " if \":\" in value:\n", " value = value.split(\":\", 1)[1].strip()\n", " \n", " try:\n", " return float(value)\n", " except:\n", " return None\n", "\n", "def convert_gender(value):\n", " if pd.isna(value):\n", " return None\n", " \n", " # Extract value after colon\n", " if \":\" in value:\n", " value = value.split(\":\", 1)[1].strip()\n", " \n", " if value.lower() == \"female\":\n", " return 0\n", " elif value.lower() == \"male\":\n", " return 1\n", " else:\n", " return None\n", "\n", "# 3. Save Metadata\n", "# Determine if trait data is available\n", "is_trait_available = trait_row is not None\n", "validate_and_save_cohort_info(\n", " is_final=False,\n", " cohort=cohort,\n", " info_path=json_path,\n", " is_gene_available=is_gene_available,\n", " is_trait_available=is_trait_available\n", ")\n", "\n", "# 4. Clinical Feature Extraction (if trait_row is not None)\n", "if trait_row is not None:\n", " # Extract clinical features\n", " clinical_df = geo_select_clinical_features(\n", " clinical_df=clinical_data,\n", " trait=trait,\n", " trait_row=trait_row,\n", " convert_trait=convert_trait,\n", " age_row=age_row,\n", " convert_age=convert_age,\n", " gender_row=gender_row,\n", " convert_gender=convert_gender\n", " )\n", " \n", " # Preview the extracted features\n", " preview = preview_df(clinical_df)\n", " print(\"Preview of clinical features:\")\n", " print(preview)\n", " \n", " # Save the clinical data\n", " os.makedirs(os.path.dirname(out_clinical_data_file), exist_ok=True)\n", " clinical_df.to_csv(out_clinical_data_file)\n", " print(f\"Clinical data saved to {out_clinical_data_file}\")\n" ] }, { "cell_type": "markdown", "id": "f3e3d004", "metadata": {}, "source": [ "### Step 3: Gene Data Extraction" ] }, { "cell_type": "code", "execution_count": 4, "id": "3539d90c", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:33.774766Z", "iopub.status.busy": "2025-03-25T08:40:33.774664Z", "iopub.status.idle": "2025-03-25T08:40:34.269550Z", "shell.execute_reply": "2025-03-25T08:40:34.269177Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "Matrix file found: ../../input/GEO/Eczema/GSE123088/GSE123088_series_matrix.txt.gz\n" ] }, { "name": "stdout", "output_type": "stream", "text": [ "Gene data shape: (24166, 204)\n", "First 20 gene/probe identifiers:\n", "Index(['1', '2', '3', '9', '10', '12', '13', '14', '15', '16', '18', '19',\n", " '20', '21', '22', '23', '24', '25', '26', '27'],\n", " dtype='object', name='ID')\n" ] } ], "source": [ "# 1. Get the SOFT and matrix file paths again \n", "soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n", "print(f\"Matrix file found: {matrix_file}\")\n", "\n", "# 2. Use the get_genetic_data function from the library to get the gene_data\n", "try:\n", " gene_data = get_genetic_data(matrix_file)\n", " print(f\"Gene data shape: {gene_data.shape}\")\n", " \n", " # 3. Print the first 20 row IDs (gene or probe identifiers)\n", " print(\"First 20 gene/probe identifiers:\")\n", " print(gene_data.index[:20])\n", "except Exception as e:\n", " print(f\"Error extracting gene data: {e}\")\n" ] }, { "cell_type": "markdown", "id": "8529df35", "metadata": {}, "source": [ "### Step 4: Gene Identifier Review" ] }, { "cell_type": "code", "execution_count": 5, "id": "db623bcf", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:34.270808Z", "iopub.status.busy": "2025-03-25T08:40:34.270704Z", "iopub.status.idle": "2025-03-25T08:40:34.272513Z", "shell.execute_reply": "2025-03-25T08:40:34.272257Z" } }, "outputs": [], "source": [ "# These identifiers appear to be numeric IDs, not human gene symbols.\n", "# They are likely probe IDs or some other form of identifiers that need to be mapped.\n", "# Looking at the first 20 identifiers, they are simply numbers like '1', '2', '3', etc.\n", "# These are not standard human gene symbols, which would typically be alphanumeric like 'BRCA1', 'TP53', etc.\n", "\n", "requires_gene_mapping = True\n" ] }, { "cell_type": "markdown", "id": "58e26c6f", "metadata": {}, "source": [ "### Step 5: Gene Annotation" ] }, { "cell_type": "code", "execution_count": 6, "id": "02a6fc9b", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:34.273629Z", "iopub.status.busy": "2025-03-25T08:40:34.273533Z", "iopub.status.idle": "2025-03-25T08:40:40.135514Z", "shell.execute_reply": "2025-03-25T08:40:40.135140Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "\n", "Gene annotation preview:\n", "Columns in gene annotation: ['ID', 'ENTREZ_GENE_ID', 'SPOT_ID']\n", "{'ID': ['1', '2', '3', '9', '10'], 'ENTREZ_GENE_ID': ['1', '2', '3', '9', '10'], 'SPOT_ID': [1.0, 2.0, 3.0, 9.0, 10.0]}\n", "\n", "Searching for platform information in SOFT file:\n", "Platform ID not found in first 100 lines\n", "\n", "Searching for gene symbol information in SOFT file:\n" ] }, { "name": "stdout", "output_type": "stream", "text": [ "No explicit gene symbol references found in first 1000 lines\n", "\n", "Checking for additional annotation files in the directory:\n", "[]\n" ] } ], "source": [ "# 1. Use the 'get_gene_annotation' function from the library to get gene annotation data from the SOFT file.\n", "gene_annotation = get_gene_annotation(soft_file)\n", "\n", "# 2. Analyze the gene annotation dataframe to identify which columns contain the gene identifiers and gene symbols\n", "print(\"\\nGene annotation preview:\")\n", "print(f\"Columns in gene annotation: {gene_annotation.columns.tolist()}\")\n", "print(preview_df(gene_annotation, n=5))\n", "\n", "# Let's look for platform information in the SOFT file to understand the annotation better\n", "print(\"\\nSearching for platform information in SOFT file:\")\n", "with gzip.open(soft_file, 'rt') as f:\n", " for i, line in enumerate(f):\n", " if '!Series_platform_id' in line:\n", " print(line.strip())\n", " break\n", " if i > 100: # Limit search to first 100 lines\n", " print(\"Platform ID not found in first 100 lines\")\n", " break\n", "\n", "# Check if the SOFT file includes any reference to gene symbols\n", "print(\"\\nSearching for gene symbol information in SOFT file:\")\n", "with gzip.open(soft_file, 'rt') as f:\n", " gene_symbol_lines = []\n", " for i, line in enumerate(f):\n", " if 'GENE_SYMBOL' in line or 'gene_symbol' in line.lower() or 'symbol' in line.lower():\n", " gene_symbol_lines.append(line.strip())\n", " if i > 1000 and len(gene_symbol_lines) > 0: # Limit search but ensure we found something\n", " break\n", " \n", " if gene_symbol_lines:\n", " print(\"Found references to gene symbols:\")\n", " for line in gene_symbol_lines[:5]: # Show just first 5 matches\n", " print(line)\n", " else:\n", " print(\"No explicit gene symbol references found in first 1000 lines\")\n", "\n", "# Look for alternative annotation files or references in the directory\n", "print(\"\\nChecking for additional annotation files in the directory:\")\n", "all_files = os.listdir(in_cohort_dir)\n", "print([f for f in all_files if 'annotation' in f.lower() or 'platform' in f.lower() or 'gpl' in f.lower()])\n" ] }, { "cell_type": "markdown", "id": "bd741756", "metadata": {}, "source": [ "### Step 6: Gene Identifier Mapping" ] }, { "cell_type": "code", "execution_count": 7, "id": "09706985", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T08:40:40.136702Z", "iopub.status.busy": "2025-03-25T08:40:40.136583Z", "iopub.status.idle": "2025-03-25T08:40:48.121950Z", "shell.execute_reply": "2025-03-25T08:40:48.121583Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "\n", "Gene mapping dataframe preview:\n", "{'ID': ['1', '2', '3', '9', '10'], 'Gene': ['1', '2', '3', '9', '10']}\n" ] }, { "name": "stdout", "output_type": "stream", "text": [ "\n", "Gene expression data after mapping:\n", "Shape: (0, 204)\n", "First 10 gene identifiers: []\n", "Gene data saved to ../../output/preprocess/Eczema/gene_data/GSE123088.csv\n" ] } ], "source": [ "# Looking at the annotation data, we can see it includes:\n", "# ID: probe identifiers that match gene_data index\n", "# ENTREZ_GENE_ID: Entrez Gene IDs which can serve as gene identifiers\n", "\n", "# 1. Identify the appropriate columns for mapping\n", "# From the preview, we can see that ID column in annotation matches the index in gene_data\n", "# ENTREZ_GENE_ID appears to be the closest to gene identifiers we have\n", "\n", "# Since the ENTREZ_GENE_ID is numeric, we'll check if it can be mapped to gene symbols\n", "# We'll use the gene_mapping function from the library with necessary columns\n", "mapping_df = get_gene_mapping(gene_annotation, 'ID', 'ENTREZ_GENE_ID')\n", "\n", "print(\"\\nGene mapping dataframe preview:\")\n", "print(preview_df(mapping_df, n=5))\n", "\n", "# 3. Apply the gene mapping to convert probe-level data to gene-level data\n", "gene_data = apply_gene_mapping(gene_data, mapping_df)\n", "\n", "print(\"\\nGene expression data after mapping:\")\n", "print(f\"Shape: {gene_data.shape}\")\n", "print(f\"First 10 gene identifiers: {list(gene_data.index[:10])}\")\n", "\n", "# Save the processed gene data to the output file\n", "os.makedirs(os.path.dirname(out_gene_data_file), exist_ok=True)\n", "gene_data.to_csv(out_gene_data_file)\n", "print(f\"Gene data saved to {out_gene_data_file}\")" ] } ], "metadata": { "language_info": { "codemirror_mode": { "name": "ipython", "version": 3 }, "file_extension": ".py", "mimetype": "text/x-python", "name": "python", "nbconvert_exporter": "python", "pygments_lexer": "ipython3", "version": "3.10.16" } }, "nbformat": 4, "nbformat_minor": 5 }