UMI Panel DNA Variants

Use this skill for targeted DNA panels where molecular barcodes, UMIs, duplex consensus, or low-frequency allele detection are central to the analysis. If the panel is ordinary germline calling without molecular consensus, use ngs-dna-germline-variants.

Essential Inputs

Confirm:

• panel/capture kit name and target BED
• UMI layout: inline read, index read, single UMI, duplex UMI, or unknown
• whether consensus reads have already been generated
• FASTQ/BAM input and pairing convention
• reference build and panel-specific annotation requirements
• minimum allele fraction goal and intended use: screening, research, validation, or exploratory
• positive/negative controls and expected spike-ins when available

Route

Use a lab-validated panel workflow when provided. For public-tool planning, combine FASTQ QC, UMI extraction/consensus generation, alignment, target coverage QC, and variant calling as separate audited stages.