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Add support for CODEC sequencing data #139

@nh13

Description

@nh13

Description of feature

Is your feature request related to a problem?

The fastquorum pipeline currently supports duplex sequencing (via CallDuplexConsensusReads) and simplex/standard UMI sequencing (via CallMolecularConsensusReads). However, it does not support CODEC (Concatenating Original Duplex for Error Correction) sequencing, a method that provides 1,000-fold higher accuracy than standard NGS by physically linking Watson and Crick strands (https://pubmed.ncbi.nlm.nih.gov/37106072/).

fgbio v3.0+ includes CallCodecConsensusReads specifically for CODEC data, but fastquorum does not yet utilize this tool.

Describe the solution you'd like

Add CODEC sequencing support to fastquorum, including:

  1. New consensus calling pathway: Add conditional logic to invoke fgbio CallCodecConsensusReads when --protocol codec (or similar parameter) is
    specified
  2. Read structure support: Document the expected CODEC read structure (typically 3M2S+T 3M2S+T - 3bp UMI, 2bp skip, template for both reads)
  3. GroupReadsByUmi configuration: CODEC requires --strategy adjacency or --strategy identity (NOT paired) per the
    http://fulcrumgenomics.github.io/fgbio/tools/latest/CallCodecConsensusReads.html
  4. CODEC-specific metrics: Consider adding appropriate QC metrics for CODEC consensus generation
  5. Test data: Add CODEC test data to nf-core/test-datasets (may need to be synthetic/simulated given data availability constraints)

Implementation notes

Additional context

CODEC sequencing is gaining adoption for high-accuracy applications including:

  • Rare mutation detection
  • Liquid biopsy analysis
  • Microsatellite instability (MSI) detection
  • Clonal hematopoiesis analysis

Related resources:


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