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Releases: Clinical-Genomics/stranger

Fix output of multi individual format and unannotated loci

26 Sep 08:53
7eebded
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[0.9.2]

Fixed

  • Use codecov badge and fix scout link on README page
  • Added a test for TRGT MCs set to .
  • Added CLI test for TRGT file
  • Codecov upload hidden artifact issue
  • Incorrect multisample, multiallele FORMAT output
  • Write unannotated entries (not in definition file) to output (reverted to pre-0.9 behaviour)

v0.9.1

01 Jul 15:43
b8f4820
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[0.9.1]

Added

  • Added github action test and release workflows

Fixed

  • Docs for TRGT annotation
  • Fallback setting allele size to 0 if MC is only set to "." and TRGT annotation requested

Support for TRGT VCFs

21 May 12:41
64e234c
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[0.9.0]

  • Add Docker image
  • Parse TRGT VCFs - in particular, decompose and parse FORMAT.MC
  • Bring in updated loci references from raredisese reference-files
  • Fix processing TRGT VCFs with missing MC and TRIDs without underscore [#59(https://github.com//pull/59)
  • Updates to pathogenic motifs for two loci: RFC1, RAPGEF2

Catalog patch DAB1, POLG

21 Jan 14:34
cf10d92
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  • Fix DAB1 pathologic repeat unit name Update POLG coords, quite a bit on hg38

Ob1 corrections, with a little help from my friends

04 Jun 19:22
9906571
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[0.8.0]

Off by one error on PathogenticMin output. All affected have at least been cautioned pre_mutation with proper size.
Added script to check HGNCId-symbol correspondence against genenames.org.
Added script to compare two variant_catalogs and warn on disagreeing field items.
Sync min/max between hg19, hg38 for ATN1, DMPK, FMR1 and TBP.Update BEAN1 documentation reference.
Update PABPN1 source tag.
Update GLS and RFC1 hg19 coordinates (zero based off by one).
Update NIPA1 locus definition updating hg19 to the current ExHu one.
Update ARX and SOX3 0-based off by one. Usually unproblematic, but gives ugly gap on REViewer alignments.
Update HTT PathogenicMin and NormalMax so already reduced penetrance are pathogenic - and mark intermediate pre_mutation.
Update pathologic region annotation on (mostly hg38 liftOver) loci affecting alternate region naming for ATXN7, ATXN8OS, FXN, HTT, CNBP, NOP56.
Update DAB1 repeat unit (revcomp) and off by one coordinates.

Merge pull request #30 from moonso/release_v0.7.1

18 Feb 14:26
dd9eee5
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Increase rank score to get above CG default loading threshold.

Add a family_id option and print to RankScore elements

03 Feb 16:38
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  • Add a family_id option and print to RankScore elements

Get a DOI

23 May 12:07
d4e7014
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This release is created to autogenerate a DOI

The one with limits

15 Nov 11:54
4d20329
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Add normal and pathologic limits for each variant to the VCF.

The one with the default json file included

16 May 12:38
87caaf1
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[0.5.4]

Update Manifest to include json resource file.