{ "cells": [ { "cell_type": "code", "execution_count": 1, "id": "bc2f67f9", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T05:40:15.555371Z", "iopub.status.busy": "2025-03-25T05:40:15.555265Z", "iopub.status.idle": "2025-03-25T05:40:15.719894Z", "shell.execute_reply": "2025-03-25T05:40:15.719532Z" } }, "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 = \"Height\"\n", "cohort = \"GSE102130\"\n", "\n", "# Input paths\n", "in_trait_dir = \"../../input/GEO/Height\"\n", "in_cohort_dir = \"../../input/GEO/Height/GSE102130\"\n", "\n", "# Output paths\n", "out_data_file = \"../../output/preprocess/Height/GSE102130.csv\"\n", "out_gene_data_file = \"../../output/preprocess/Height/gene_data/GSE102130.csv\"\n", "out_clinical_data_file = \"../../output/preprocess/Height/clinical_data/GSE102130.csv\"\n", "json_path = \"../../output/preprocess/Height/cohort_info.json\"\n" ] }, { "cell_type": "markdown", "id": "a38b04a5", "metadata": {}, "source": [ "### Step 1: Initial Data Loading" ] }, { "cell_type": "code", "execution_count": 2, "id": "ed96f144", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T05:40:15.721357Z", "iopub.status.busy": "2025-03-25T05:40:15.721212Z", "iopub.status.idle": "2025-03-25T05:40:15.822495Z", "shell.execute_reply": "2025-03-25T05:40:15.822165Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "Background Information:\n", "!Series_title\t\"Single cell RNA-seq analysis of K27M-mutant glioma\"\n", "!Series_summary\t\"To understand the diversity of expression states within K27M-mutant gliomas, we profiled 4058 single cells, primarily from 6 K27M-mutant gliomas, by single cell RNA-seq\"\n", "!Series_overall_design\t\"Tumors were disaggregated, sorted into single cells, and profiled by Smart-seq2.\"\n", "!Series_overall_design\t\"------------------------------------------------------\"\n", "!Series_overall_design\t\"Authors state that \"\"We are currently unable to deposit the raw data\"\n", "!Series_overall_design\t\"due to privacy concerns, but will have the raw data available once\"\n", "!Series_overall_design\t\"we obtain permission from our institution.\"\"\"\n", "!Series_overall_design\t\"Please contact the submitter directly regarding access to raw data on a case-by-case basis.\"\n", "Sample Characteristics Dictionary:\n", "{0: ['sample type: human tumor', 'sample type: patient-derived xenogrft (PDX)', 'sample type: patient-derived xenograft(PDX)', 'sample type: cell culture']}\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": "0524a05b", "metadata": {}, "source": [ "### Step 2: Dataset Analysis and Clinical Feature Extraction" ] }, { "cell_type": "code", "execution_count": 3, "id": "ef3e887e", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T05:40:15.823631Z", "iopub.status.busy": "2025-03-25T05:40:15.823518Z", "iopub.status.idle": "2025-03-25T05:40:15.830385Z", "shell.execute_reply": "2025-03-25T05:40:15.830107Z" } }, "outputs": [ { "data": { "text/plain": [ "False" ] }, "execution_count": 3, "metadata": {}, "output_type": "execute_result" } ], "source": [ "# 1. Gene Expression Data Availability\n", "# This dataset is about K27M-mutant gliomas analyzed with single-cell RNA-seq\n", "# It explicitly mentions profiling cells by RNA-seq, so gene expression data should be available\n", "is_gene_available = True\n", "\n", "# 2. Variable Availability and Data Type Conversion\n", "# 2.1 Data Availability\n", "# Looking at the sample characteristics dictionary, we don't see height/age/gender information\n", "# The only key is 0, which contains sample type information, but not our variables of interest\n", "trait_row = None # Height data is not available\n", "age_row = None # Age data is not available \n", "gender_row = None # Gender data is not available\n", "\n", "# 2.2 Data Type Conversion\n", "# Even though we don't have the data, we'll define conversion functions in case they're needed elsewhere\n", "def convert_trait(value):\n", " # For height, we would normally extract a numeric value in cm or inches\n", " if value is None or pd.isna(value):\n", " return None\n", " \n", " # Extract the value part after the colon if present\n", " if isinstance(value, str) and ':' in value:\n", " value = value.split(':', 1)[1].strip()\n", " \n", " try:\n", " # Try to convert to float for continuous height measurement\n", " return float(value)\n", " except (ValueError, TypeError):\n", " return None\n", "\n", "def convert_age(value):\n", " # For age, we would normally extract a numeric value in years\n", " if value is None or pd.isna(value):\n", " return None\n", " \n", " # Extract the value part after the colon if present\n", " if isinstance(value, str) and ':' in value:\n", " value = value.split(':', 1)[1].strip()\n", " \n", " try:\n", " # Try to convert to float for continuous age\n", " return float(value)\n", " except (ValueError, TypeError):\n", " return None\n", "\n", "def convert_gender(value):\n", " # For gender, we would convert to binary: female=0, male=1\n", " if value is None or pd.isna(value):\n", " return None\n", " \n", " # Extract the value part after the colon if present\n", " if isinstance(value, str) and ':' in value:\n", " value = value.split(':', 1)[1].strip().lower()\n", " \n", " if isinstance(value, str):\n", " value = value.lower()\n", " if 'female' in value or 'f' == value:\n", " return 0\n", " elif 'male' in value or 'm' == value:\n", " return 1\n", " \n", " return None\n", "\n", "# 3. Save Metadata\n", "# Initial filtering - trait data is not available (trait_row is None)\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\n", "# Since trait_row is None, we skip this substep\n" ] }, { "cell_type": "markdown", "id": "1add0104", "metadata": {}, "source": [ "### Step 3: Gene Data Extraction" ] }, { "cell_type": "code", "execution_count": 4, "id": "b6d81e82", "metadata": { "execution": { "iopub.execute_input": "2025-03-25T05:40:15.831434Z", "iopub.status.busy": "2025-03-25T05:40:15.831329Z", "iopub.status.idle": "2025-03-25T05:40:16.404442Z", "shell.execute_reply": "2025-03-25T05:40:16.404004Z" } }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "Matrix file size: 159095 bytes\n", "Found data marker at line 70\n", "Next line after marker: 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"\n", "Examining SOFT file as alternative data source:\n", "^DATABASE = GeoMiame\n", "!Database_name = Gene Expression Omnibus (GEO)\n", "!Database_institute = NCBI NLM NIH\n", "!Database_web_link = http://www.ncbi.nlm.nih.gov/geo\n", "!Database_email = geo@ncbi.nlm.nih.gov\n", "^SERIES = GSE102130\n", "!Series_title = Single cell RNA-seq analysis of K27M-mutant glioma\n", "!Series_geo_accession = GSE102130\n", "!Series_status = Public on Apr 21 2018\n", "!Series_submission_date = Aug 01 2017\n", "!Series_last_update_date = Jun 03 2019\n", "!Series_pubmed_id = 29674595\n", "!Series_summary = To understand the diversity of expression states within K27M-mutant gliomas, we profiled 4058 single cells, primarily from 6 K27M-mutant gliomas, by single cell RNA-seq\n", "!Series_overall_design = Tumors were disaggregated, sorted into single cells, and profiled by Smart-seq2.\n", "!Series_overall_design = ------------------------------------------------------\n", "!Series_overall_design = Authors state that \"We are currently unable to deposit the raw data\n", "!Series_overall_design = due to privacy concerns, but will have the raw data available once\n", "!Series_overall_design = we obtain permission from our institution.\"\n", "!Series_overall_design = Please contact the submitter directly regarding access to raw data on a case-by-case basis.\n", "!Series_type = Expression profiling by high throughput sequencing\n", "\n", "Attempting to extract gene data from matrix file:\n" ] }, { "name": "stdout", "output_type": "stream", "text": [ "Extracted gene expression data is empty\n", "\n", "Gene expression data available: False\n" ] } ], "source": [ "# 1. Get the file paths for the SOFT file and matrix file\n", "soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n", "\n", "# 2. First, examine the structure of both files to understand their format\n", "import gzip\n", "\n", "# Check the size of the matrix file first\n", "import os\n", "matrix_file_size = os.path.getsize(matrix_file)\n", "print(f\"Matrix file size: {matrix_file_size} bytes\")\n", "\n", "# Peek at the matrix file structure\n", "with gzip.open(matrix_file, 'rt') as file:\n", " # Read first 100 lines to find the header structure\n", " lines_found = 0\n", " data_marker_found = False\n", " for i, line in enumerate(file):\n", " if '!series_matrix_table_begin' in line:\n", " print(f\"Found data marker at line {i}\")\n", " data_marker_found = True\n", " # Read the next line which should be the header\n", " next_line = next(file, None)\n", " if next_line:\n", " print(f\"Next line after marker: {next_line.strip()}\")\n", " lines_found += 1\n", " else:\n", " print(\"No data after marker\")\n", " break\n", " if i >= 100: # Limit search to first 100 lines\n", " break\n", " \n", " if not data_marker_found:\n", " print(\"Matrix table marker not found in first 100 lines\")\n", "\n", "# 3. Check the SOFT file as an alternative source of gene data\n", "print(\"\\nExamining SOFT file as alternative data source:\")\n", "with gzip.open(soft_file, 'rt') as file:\n", " for i, line in enumerate(file):\n", " if i < 20: # Just show the first few lines to understand format\n", " print(line.strip())\n", " else:\n", " break\n", "\n", "# 4. Attempt to extract gene expression data with error handling\n", "try:\n", " print(\"\\nAttempting to extract gene data from matrix file:\")\n", " gene_data = get_genetic_data(matrix_file)\n", " if gene_data.empty:\n", " print(\"Extracted gene expression data is empty\")\n", " else:\n", " print(f\"Successfully extracted gene data with {len(gene_data.index)} rows\")\n", " print(\"First 20 gene IDs:\")\n", " print(gene_data.index[:20])\n", "except Exception as e:\n", " print(f\"Error extracting gene data: {e}\")\n", " print(\"This dataset appears to have an empty or malformed gene expression matrix\")\n", "\n", "# 5. Set is_gene_available flag based on our findings\n", "is_gene_available = False # Based on our examination, this dataset doesn't contain usable gene expression data\n", "print(f\"\\nGene expression data available: {is_gene_available}\")" ] } ], "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 }