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Guides, documentation, and support for your genomic analysis.

GATK Germline Full Analysis

How to Use

  1. Upload Data: Navigate to the Workflow page and upload your FASTQ files to the Input Bucket.
  2. Configure Run: Go to the Dashboard, select "New Run", and choose the "Germline Full Analysis" pipeline.
  3. Set Parameters: Enter any specific parameters (e.g., reference genome version, target regions) if needed.
  4. Start Analysis: Click "Start Run". You can monitor progress in real-time on the Dashboard.
  5. Download Results: Once complete, download your VCF and BAM files from the Output Bucket.

References

For more details on the algorithms and best practices, please refer to the official GATK documentation:
GATK Best Practices & Documentation

Service & Pricing Policy

Standard Service

Easy Cloud Analysis ($25 / sample)

Designed for individual researchers and small-scale projects.

  • Self-Service: Simply upload your data and start the analysis.
  • Per-Sample Billing: Pay only for what you analyze.
  • Standard WGS: Optimized for standard Whole Genome Sequencing workflows.
  • Cloud-Based: No infrastructure to manage.

Enterprise Service

Custom Solutions & Consulting

Tailored for large-scale cohorts and complex requirements.

  • Consulting & Management: Full support from pipeline design to operation.
  • High-Speed Processing: Dedicated resources for massive datasets.
  • Advanced Workflows: Support for Joint Calling, Somatic analysis, and custom pipelines.
  • Priority Support: Direct access to our engineering team.

Frequently Asked Questions

What input formats are supported?

We currently support FASTQ files (paired-end or single-end) for the Germline pipeline.

How long does analysis take?

A standard 30x WGS sample typically takes about 30 minutes to process using our accelerated engine.

Is my data secure?

Yes, all data is stored in secure AWS S3 buckets with strict access controls. We do not retain data after the user deletes it.

Still have questions?

Our team is here to help you with any technical or billing inquiries.

Contact Support (ig.shin@nmuict.co.kr)