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SMOOVE_LUMPY_GERMLINE_README.md

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KFDRC Smoove/Lumpy Workflow

The KFDRC Smoove/Lumpy Workflow is a tool that uses the smoove small cohort implementation to perform single or joint strucural varaint (SV) calling of input BAM(s)/CRAM(s).

The tool requires one or more BAM/CRAM inputs, a reference fasta + fai, and basename for the outputs. The tool will then output a single bgzip compressed VCF and associated tabix index.

Tips for Running:

  1. To improve performace, consider using the exclude_bed option with the following file.