CHIP Variant Calling and Processing
  • Clonal Hematopoesis Varaint Calling and Process
  • Workflow Description
  • Requirements
  • Installation and Usage
  • Tools Description
  • Inputs Description
  • Output Description
  • Usage of individual commands
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Workflow Description

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Last updated 1 year ago

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CHIP-VAR workflow consists of multiple sub-workflows, written in Common Workflow Language (CWL). Figure 1 shows the complete pipeline grouped according to functionality.

The 3 major steps in the order of working are

  1. Variant Calling,

  2. Variant Annotation,

  3. Filtering and Tagging

The pipeline is run for every sample in a project and finally, the results from all the samples in a particular project are then combined to further filter for artifacts and likely germline variants.

This set of variants is then marked as either High Confidence [HC] CH-PD [CH Putative Driver mutations] or non-CH-PD based on the conditions listed in the white boxes.

The bottom light pink box in the above image elaborates on the variant calling workflow using the VarDictJava tool which consists of: calling, sorting, normalizing, and concatenating the complex and normal variant VCF files.

Complete Workflow for CHIP-VAR
Variant Calling for CHIP-VAR