isofox v2.0
·
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