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burden-testing

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CallForge — a reproducible Nextflow pipeline for targeted-capture germline analysis: FASTQ to annotated joint callset (SNV/indel, CNV, STR, paralog-aware) with cohort QC, GIAB benchmarking, and rare-variant burden testing. Pairs with CaptureForge; runs standalone.

  • Updated Sep 11, 2026
  • Python

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