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PCGR v.2.0rc - 2024 #223

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PCGR v.2.0rc - 2024 #223

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sigven
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@sigven sigven commented Apr 29, 2024

  • Functionality to support new reference data management
  • Functionality to support RNA-seq (bulk) expression input - correlation against reference samples (TCGA/DepMap/Treehouse), preliminary outlier detection (TCGA only)
  • Functionality to support VEP cache as a separate entity from the PCGR reference data
  • New copy number input format - absolute, allele-specific (nMajor + nMinor)
  • Copy number annotation moved from pcgrr to Python workflow
  • Variant oncogenicity assessment (SNVs/InDels, based on VICC/ClinGen guidelines) implemented in Python workflow
  • More robust biomarker matching implemented in Python workflow - considering genomic coordinates, HGVSp entries (considering principal and non-principal matches)
  • New HTML templates - quarto-based
  • New Excel workbook output

@sigven sigven changed the title PCGR v.1.5rc - 2024 PCGR v.2.0rc - 2024 Apr 30, 2024
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