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isofox v2.0

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@hmftools-release-bot hmftools-release-bot released this 08 Jun 21:27
· 230 commits to master since this release

Functional:

  • expression using driver gene panel to set new ReportedStatus field
  • trim 3' adapter sequence from paired reads
  • removed unmapped read analysis
  • alt splice junction write trascript, exons and a passing file using driver gene panel reportable status
  • fusion write common known fusion type, transcript and exon from canonical if found otherwise any other
  • panels: restricted gene IDs only used to limit expression output
  • panels: TPM norm file - set non-zero median TPM
  • report on gene expression based on cohort comparisons and driver gene panel
  • write passing alt-SJs if match known exon del-dup
  • load and apply excluded regions file (config: excluded_regions) , slice around regions and drop any read with any part including a supp overlapping

Technical:

  • writes TSV files instead of CSV
  • use TPM norm to adjust low coverage threshold

Config:

  • add alt_sj_cohort_file
  • add gene_distribution_file
  • add driver gene panel
  • add excluded regions file