Abstract LB162: Twistcgp pipeline: A portable, open-source workflow for comprehensive genomic profiling in translational oncology

Key Points

• The study aims to present a portable, open-source workflow for comprehensive genomic profiling to enhance reproducibility and adaptability in cancer research.
• Developed the twistcgp bioinformatics workflow based on the Twist Oncology DNA CGP Panel.
• Implemented the workflow using Nextflow for flexible deployment on various computing platforms.
• Conducted analyses including somatic SNV detection, copy number variant analysis, TMB estimation, and MSI classification.
• The workflow successfully detected expected somatic variations with standardized quality metrics across samples.
• TMB and MSI estimates were consistent with prior expectations based on panel data.
• The system supports cross-sample and cross-site comparison without reliance on proprietary software.