bio-copy-number-focal-amplification-ecdna
Resolve the architecture of focal oncogene amplifications — extrachromosomal DNA (ecDNA), breakage-fusion-bridge (BFB) cycles, homogeneously staining regions (HSR), and linear amplification — from whole-genome sequencing with AmpliconArchitect, the AmpliconSuite pipeline, and AmpliconClassifier. Covers copy-number seed selection, breakpoint-graph reconstruction, balanced-flow optimization, ecDNA classification, and the limits of depth-only amplification calls. Use when a focal amplification needs structural characterization, when distinguishing ecDNA from chromosomal amplification, suspecting
npx skills add BioTender-max/awesome-bio-agent-skills --skill focal-amplification-ecdna --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
## Version Compatibility Reference examples tested with: AmpliconSuite-pipeline 1.3+, AmpliconArchitect 1.3+, AmpliconClassifier 1.2+, CNVkit 0.9.10+, Python 3.10+, samtools 1.19+. Before using code patterns, verify installed versions match. If versions differ: - CLI: `AmpliconSuite-pipeline.py --help`, `amplicon_classifier.py --help` - AmpliconArchitect needs a `$AA_DATA_REPO` reference download and a Mosek license (free for academic use); confirm both are configured before running Verify the reference build — AmpliconArchitect was historically hg19-centric; GRCh38 support and data repos exist but the build must be set explicitly and consistently. # Focal Amplification and ecDNA **"This oncogene is amplified — but how, structurally"** -> A depth caller reports "high focal amplification" and stops. The biology depends entirely on the *architecture*: extrachromosomal DNA (ecDNA) behaves utterly differently from a chromosomal homogeneously staining region. Resolving architecture needs the breakpoint graph, not depth. - CLI: `AmpliconSuite-pipeline.py` (end-to-end), `AmpliconArchitect` (graph reconstruction), `AmpliconClassifier` (architecture call) - Input: WGS BAM plus copy-number s
- Version Compatibility
- Why Architecture Matters — Four Amplicon Classes
- When to Suspect ecDNA
- The AmpliconSuite Workflow
- Failure Modes
- Garbage copy-number seeds produce garbage amplicons
- Calling ecDNA from depth alone
- Genome-build mismatch
- Short-read limits on complex amplicon resolution
- Inadequate coverage or FFPE input
- Reconciliation
- Quantitative Thresholds
- Common Errors
- References
AmpliconClassifier in sequence. AmpliconSuite-pipeline.py \ table assigning each amplicon an architecture class. CN above the seed threshold and to focal (not arm-level) size. AmpliconSuite-pipeline.py -s sample_id -t 8 --bam tumor.bam --ref GRCh38 \
What does the bio-copy-number-focal-amplification-ecdna skill do?
Resolve the architecture of focal oncogene amplifications — extrachromosomal DNA (ecDNA), breakage-fusion-bridge (BFB) cycles, homogeneously staining regions (HSR), and linear amplification — from whole-genome sequencing with AmpliconArchitect, the AmpliconSuite pipeline, and AmpliconClassifier. Covers copy-number seed selection, breakpoint-graph reconstruction, balanced-flow optimization, ecDNA classification, and the limits of depth-only amplification calls. Use when a focal amplification needs structural characterization, when distinguishing ecDNA from chromosomal amplification, suspecting
How do I install it?
Run `npx skills add BioTender-max/awesome-bio-agent-skills --skill focal-amplification-ecdna --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From BioTender-max/awesome-bio-agent-skills, a repository with 135 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.
