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linx-v1.8

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@charlesshale 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