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bio-clinical-databases-tumor-mutational-burden

Maintainer FreedomIntelligence · Last updated April 1, 2026

Calculate tumor mutational burden from panel or WES data with proper normalization and clinical thresholds. Use when assessing immunotherapy eligibility or characterizing tumor immunogenicity.

OpenClawNanoClawAnalysisReproductionbio-clinical-databases-tumor-mutational-burden🧬 bioinformatics (gptomics bio-* suite)bioinformatics — clinical databases & variant analysiscalculate

Original source

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-clinical-databases-tumor-mutational-burden

Maintainer
FreedomIntelligence
License
MIT
Last updated
April 1, 2026

Skill Snapshot

Key Details From SKILL.md

2 min

Key Notes

  • Python: cyvcf2 for VCF parsing + variant counting per panel region.
  • Calculate TMB from my tumor sequencing data" → Compute tumor mutational burden as nonsynonymous coding mutations per megabase with proper panel normalization for immunotherapy eligibility assessment. Python: cyvcf2 for VCF parsing + variant counting per panel region.
  • PANEL_SIZES_MB = { 'FoundationOne CDx': 0.8, 'MSK-IMPACT': 1.14, 'TruSight Oncology 500': 1.94, 'Oncomine Comprehensive': 1.5, 'WES (exome)': 30.0, # Approximate coding region 'WGS': 3000.0, # Approximate }.
  • def calculate_tmb_panel(vcf_path, panel_name): '''Calculate TMB for known panel''' if panel_name not in PANEL_SIZES_MB: raise ValueError(f'Unknown panel: {panel_name}') return calculate_tmb(vcf_path, PANEL_SIZES_MB[panel_name]).

Source Doc

Excerpt From SKILL.md

TMB Calculation from VCF (Ensembl VEP 111+)

Goal: Calculate tumor mutational burden as nonsynonymous coding mutations per megabase from a somatic VCF.

Approach: Iterate through VCF variants, filter for coding nonsynonymous consequences via VEP/SnpEff annotations, and divide count by panel size.

Panel-Specific TMB (Ensembl VEP 111+)

Goal: Calculate TMB normalized to known gene panel capture region sizes.

Approach: Look up the panel's megabase coverage from a reference table and pass to the TMB calculator.


## TMB with Variant Filtering (Ensembl VEP 111+)

**Goal:** Calculate TMB with quality and germline filters to reduce false positives.

**Approach:** Apply VAF, depth, and gnomAD population frequency filters before counting coding nonsynonymous variants.

Use cases

  • Use when assessing immunotherapy eligibility or characterizing tumor immunogenicity.

Not for

  • Do not rely on this catalog entry alone for installation or maintenance details.

Upstream Related Skills

  • variant-calling/somatic-variant-calling - Input variants
  • variant-calling/clinical-interpretation - ACMG/AMP classification
  • variant-calling/variant-annotation - VEP/SnpEff annotation

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