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v1.6.0 - Offbeat Ostend

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@nvnieuwk nvnieuwk released this 29 Apr 13:30
5ad1ca9

New features

  1. Added UPDio for Uniparental Disomy detection in family samples. This introduces the --updio parameter to turn on this detection and --updio_common_cnvs to supply a common CNVs file to UPDio. The family needs to contain at least one child with its mother and father.
  2. Added docs built with MkDocs. See the documentation site here.
  3. Added AutoMap to find regions of homozygosity from human samples. This introduces the --automap parameter to turn on this feature and the --automap_repeats, --automap_panel and --automap_panel_name parameters to configure AutoMap (see the parameters docs for more information)

Changes

  1. Updated all tests to use snapshots instead.
  2. Made the pipeline pluggable to enable the use of it in a meta pipeline.