pipeline-call-mtSNV
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Overview
How To Run
Flow Diagram
Pipeline Steps
Inputs
Outputs
Testing and Validation
References
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pipeline-call-mtSNV
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Boutros Lab call-mtSNV pipeline
Boutros Lab call-mtSNV pipeline
Overview
How To Run
Requirements
Flow Diagram
Pipeline Steps
1. Extract mtDNA
a. BAM Processing BAMQL
b. CRAM processing with SAMTools
2. Align mtDNA with MToolBox
3. Call mtSNV with mitoCaller
4. Convert mitoCaller output with Mito2VCF
5. Call Heteroplasmy on Paired Samples
Inputs
input.yaml
Single Mode
Paired Mode
input.config
Base resource allocation updaters
Outputs
Testing and Validation
Test Data Set
Running Tests with NFTest
Validation Tool
References
Discussions
Contributors
Please see list of Contributors at GitHub.
License
GitHub
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