Uploading VCF Files

VCF (Variant Call Format) files are the primary input for variant analysis in VariantMiner. This guide walks you through the process of uploading VCF files and understanding the automated processing that follows.

Before You Begin

File Requirements

  • Format: VCF files (.vcf or .vcf.gz)

  • Compression: Gzipped files (.gz) are recommended for faster uploads

  • Index files: Tabix index files (.tbi) are optional but recommended

  • Size limits: Check with your administrator for maximum file sizes

  • Content: Files should contain variant calls from standard variant callers

Prerequisites

  • You must have Editor or higher permissions in your workspace

  • Ensure you have sufficient storage quota available

  • Have your VCF files ready on your local computer or network

Upload Methods

Method 1: Dashboard Quick Upload

  1. Access the dashboard

    • Navigate to the main VariantMiner dashboard

    • Click "Upload New File" button

File Management DashboardThe Files dashboard showing uploaded VCF files and their processing status

  1. Select your file

    • Click "Choose File" or drag and drop your VCF file

    • Select the VCF file from your computer

    • The file name will appear in the upload field

  2. Configure upload settings

    • File Name: Edit the display name if desired

    • Description: Add an optional description

    • Workspace: Confirm the correct workspace is selected

  3. Start upload

    • Click "Upload File"

    • Progress bar will show upload status

    • Do not close the browser tab during upload

Method 2: Files Section Upload

  1. Navigate to Files

    • Click "Files" in the main navigation

    • Select "Upload VCF File" from the files dashboard

  2. File selection

    • Use the file browser to select your VCF file

    • Multiple files can be selected for batch upload

    • Preview file information before uploading

  3. Metadata configuration

    • Sample Information: Link to existing samples or create new ones

    • Subject Association: Connect to patient records

    • File Roles: Specify if this is a primary analysis file or supplementary

    • Tags: Add searchable tags for organization

  4. Advanced options

    • Processing Priority: Set processing queue priority

    • Notification Settings: Configure completion notifications

    • Storage Options: Choose storage backend (if multiple options available)

Upload Process

During Upload

  • Progress Tracking: Real-time progress bar shows upload status

  • Speed Information: Upload speed and estimated time remaining

  • Cancellation: Option to cancel upload if needed

  • Error Handling: Automatic retry for network interruptions

Upload Completion

Once upload completes:

  1. File status changes to "Processing"

  2. Background processing begins automatically

  3. Notification sent (if configured)

  4. File appears in your files dashboard

Automated Processing

Processing Pipeline

After upload, VariantMiner automatically:

  1. File Validation

    • Checks VCF format compliance

    • Validates headers and sample information

    • Ensures file integrity

  2. Database Generation

    • Creates optimized SQLite database for fast querying

    • Indexes variants for efficient searching

    • Calculates summary statistics

  3. Annotation Enhancement

    • Adds additional annotation information

    • Links to external databases

    • Calculates pathogenicity scores

  4. Quality Metrics

    • Generates file quality reports

    • Calculates variant distribution statistics

    • Identifies potential issues

Processing Status

Monitor processing through the Files dashboard:

  • Pending: File uploaded, waiting to start processing

  • Processing: Active background processing

  • Completed: Ready for analysis

  • Error: Processing failed (see error details)

Processing Time

Processing time depends on:

  • File size: Larger files take longer

  • Variant count: More variants require more processing time

  • Server load: Queue position affects start time

  • Complexity: Multi-sample files take longer

Typical processing times:

  • Small files (< 100MB): 5-15 minutes

  • Medium files (100MB - 1GB): 15-60 minutes

  • Large files (> 1GB): 1-4 hours

File Management After Upload

File Information

Once uploaded, view file details:

  • File statistics: Variant counts, sample information

  • Processing logs: Detailed processing information

  • Quality metrics: File quality assessment

  • Download options: Access to original and processed files

File Actions

Available actions for uploaded files:

  • Browse Variants: Open the variant browser

  • Create Order: Start analysis workflow

  • Link to Sample: Associate with biological samples

  • Add to Report: Include variants in clinical reports

  • Download: Access original or processed files

  • Delete: Remove file (if permitted)

Troubleshooting Upload Issues

Upload Failures

Slow Upload Speeds

  • Check your internet connection

  • Use compressed (.gz) files

  • Upload during off-peak hours

  • Contact your network administrator

Upload Interrupted

  • Resume upload if browser supports it

  • Clear browser cache and retry

  • Try a different browser

  • Check file permissions

File Size Errors

  • Verify file size limits with administrator

  • Compress file if not already compressed

  • Split large files if possible

  • Check available storage quota

Processing Errors

Format Validation Errors

  • Verify VCF file format compliance

  • Check for corrupted headers

  • Ensure proper sample definitions

  • Validate with external VCF tools

Processing Timeouts

  • Very large files may require extended processing time

  • Contact administrator if processing seems stuck

  • Check system status and load

  • Review processing logs for specific errors

Storage Errors

  • Check workspace storage quota

  • Verify file system permissions

  • Contact administrator for storage issues

  • Clear old files if quota exceeded

Best Practices

File Preparation

  • Compress files: Use gzip compression for faster uploads

  • Include index files: Upload .tbi files alongside VCF files

  • Validate format: Check VCF format before uploading

  • Plan metadata: Prepare sample and subject information in advance

Organization

  • Naming conventions: Use consistent, descriptive file names

  • Descriptions: Add meaningful descriptions for future reference

  • Tags: Use tags for easy searching and organization

  • Folder structure: Organize files logically within workspaces

Performance

  • Upload timing: Upload large files during low-traffic periods

  • Batch uploads: Group related files for efficient processing

  • Monitor progress: Watch for errors during upload and processing

  • Clean up: Remove unnecessary files to maintain performance

Security

  • Data sensitivity: Ensure files contain appropriate data for the workspace

  • Access control: Verify workspace permissions before uploading

  • Compliance: Follow institutional data handling policies

  • Backup: Maintain backups of original files


Files uploaded successfully? Continue to File Processing Status to learn about monitoring and managing your processed files.

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