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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

  1. GATK
  2. Getting Started
  3. Best Practices Workflows

Best Practices Workflows

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  • Getting started with GATK4
    GATK — properly pronounced "Gee-ay-tee-kay" (/dʒi•eɪ•ti•keɪ/) and not "Gat-ka...
  • About the GATK Best Practices
    This document provides important context information about how the GATK Best ...
  • GATK Best Practices for Structural Variation Discovery on Single Samples
    GATK-SV is a structural variation discovery pipeline for Illumina short-read ...
  • Mitochondrial short variant discovery (SNVs + Indels)
    The mitochondrial genome poses several challenges to the identification and u...
  • Somatic short variant discovery (SNVs + Indels)
    Identify somatic short variants (SNVs and Indels) in one or more tumor sample...
  • Germline short variant discovery (SNPs + Indels)
    Purpose Identify germline short variants (SNPs and Indels) in one or more in...
  • Data pre-processing for variant discovery
    Purpose Data pre-processing is the obligatory first phase that must precede ...
  • Somatic copy number variant discovery (CNVs)
    Purpose Identify somatic copy number variant (CNVs) in a case sample. Requir...
  • RNAseq short variant discovery (SNPs + Indels)
    Identify short variants (SNPs and Indels) in RNAseq data. Reference Im...

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