Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

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Germline copy number variant discovery (CNVs) Follow

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GATK Team
  • Updated

Purpose

Identify germline copy number variants.

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Reference implementation is not available

This workflow is in development; detailed documentation will be made available when the workflow is considered fully released.

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