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bio-clinical-databases-tumor-mutational-burden

Calculates tumor mutational burden from WES/WGS/panel data with Friends of Cancer Research harmonization equations, per-assay calibration (FDA 10/Mb = 7.8 TSO500 = 8.4 OncomineTML), synonymous/indel/germline filtering, hypermutator tiering, blood TMB, and integration with HLA-LOH and neoantigen quality (Luksza 2017 fitness). Use when assessing ICI eligibility under tumor-specific cutoffs (McGrail

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Atualizado há 4 meses

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Version Compatibility

Reference examples tested with: cyvcf2 0.30+, VEP 111+ (or snpEff 5.2+), pandas 2.2+, numpy 1.26+, LOHHLA 1.0+ (Marty 2017), DASH 1.0+ (Montesion 2021). v4.1 (May 2024) gnomAD is current for germline subtraction. Friends of Cancer Research TMB harmonization framework (Vega 2021 Ann Oncol) and ESMO 2024 (Mosele Ann Oncol) define the operational thresholds.

Before using code patterns, verify installed versions match. If versions differ:

  • Python: pip show <package>

[Description truncada. Veja o README completo no GitHub.]

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