pcgr icon indicating copy to clipboard operation
pcgr copied to clipboard

Published 20 hours ago • verified publisher icon sigven

PCGR v.2.0rc - 2024

Open sigven opened this issue 9 months ago • 0 comments

  • 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 avatar Apr 29 '24 08:04 sigven