linx-v1.8
charlesshale
released this
03 Mar 19:23
·
15710 commits
to master
since this release
Functional:
- Visualiser - when specifying a gene to display, this can now be referenced in the Ensembl data cache rather than the more limited internal gene panel by providing a path to the data cache with config: 'gene_transcripts_dir'
- cluster 3 or more overlapping DELs and DUPs with matching copy number and forming potential links
- added INDEL annotation for shattering analysis with config: 'indel_annotation' and 'indel_input_file'
- chain consistency now checks for valid centromere traversal
- re-search for chained foldbacks once chaining is complete
- germline SVs disruption logic added
- Double Minutes:
- criteria to identify possible BFB ploidy, pairs of SGL breakends
- allow closed DM loops to amplify centromere
- check all arms in cluster for telo/centro CN vs DM ploidy or require 50x sample ploidy
Technical
- fail if fusion reference files aren't found, DEV-1121