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Releases: PharmGKB/PharmCAT

v2.15.3

28 Aug 08:21
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2.15.3 (2024-08-28)

Bug Fixes

  • data: track singular variants (fb1ebbd)
  • data: update data (c8100ec)
  • namedallelematcher: fix permutation generation with mix of phased/unphased data (2146db0)
  • phenotyper: improve support for combinations in outside calls (b1a6deb)
  • reporter: fix limiting reports by source (ac0c52e)
  • reporter: fix matching diplotype-specific recommendations (11fc7b4)
  • reporter: take subsetting into account when calculating total genes (6ef47cc)

v2.15.2

20 Aug 20:24
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2.15.2 (2024-08-20)

Bug Fixes

  • data: fill in DPYD lookupkeys for DPWG (90d587b)
  • tools: gene regions for F5, CYP2D6, VKORC1, IFNL4 for research purposes (5f0e6dd)
  • tools: show the name of the sample whose result files are being processed (8d6d1c8)

v2.15.1

17 Aug 05:25
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2.15.1 (2024-08-17)

Bug Fixes

  • do not require any base filename before the sample IDs (7250db4)
  • validate outside call diplotypes (9c49fbc)
  • data: include missing CPIC metoprolol guidance (b117835)
  • subsetter: fix bugs in subsetter (683a361)

v2.15.0

06 Aug 22:32
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2.15.0 (2024-08-06)

Features

  • json2tsv: report error when no allele definition json can be found (03a8b1f)
  • phenotyper: generate diplotype data (ed4d03f)

Bug Fixes

  • fix haplotype name sorting (f9888b0)
  • improve Subsetter (971ba16)
  • reduce data size (5bdcc49)
  • data: update data (a57b955)
  • json2tsv: allow the script to find the allele definition jsons from wherever it is run (03151ba)
  • namedallelematcher: avoid exceptions (f4fe35a)
  • namedallelematcher: fix handling of phased DPYD HapB3 alleles (286b76d)
  • namedallelematcher: make NamedAllele.structuralVariant a private property (df68105)
  • namedallelematcher: make sure cached properties are updated correctly (ab1e194)
  • phenotyper: fix typo in CYP2D6 activity value assignment and drug count (36cc688)
  • phenotyper: fix typo in two specific CYP2D6 diplotype activity score assignment (cae0f8c)
  • phenotyper: use correct comparator (4cf8cb2)
  • preprocessor: resolve errors caused by similar sample names (905b2c3)
  • subsetter: fix how numeric cells are handled in Excel (bbaa135)

v2.14.0

19 Jul 04:18
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2.14.0 (2024-07-19)

Features

  • data: make all allele definitions import from PharmGKB (47da939)
  • data: update to PharmVar v6.1.3 (e4b8fc2)

Bug Fixes

  • data: fix downloading new guidance data (a1007c0)
  • diplotype-comparator: update string delimiter (e10a2ea)
  • namedallelematcher: fix exception thrown while sorting diplotype matches (093f5b2)
  • namedallelematcher: handle CYP2D6 and HLA outside calls with sub-alleles gracefully (dcaa055)
  • reporter: fix how allele presence phenotypes are shown in final report (2f00c6c)
  • reporter: fix missing PMID in report citation data (81a0df2), closes #187
  • reporter: fix multiple version check logic (3af2726)
  • reporter: fix phenotype check by querying only phenotype-related genes in an annotation (b666953), closes #180
  • reporter: warn if multiple versions found (9bb2a55)

v2.13.0

11 Jun 04:04
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2.13.0 (2024-06-11)

Features

  • diplotype-comparator: find equivalent phased alleles (a8a786c)
  • pharmcat: add FDA drug guidance (ae6ea63)
  • preprocessor: retain genomic regions specified in a bed file (d017be5)

Bug Fixes

  • remove non-existent test class (1a91885)
  • data: delete obsolete files before exporting positions (8acb549)
  • datamanager: add support for subsetting allele definitions (79fb6ea)
  • datamanager: handle all allele/position removal during data ingestion phase (85a770f)
  • datamanager: remove populationFrequency from named allele (never used) (5ecaa74)
  • preprocessor: ploidy at multiallelic positions (8805275)
  • preprocessor: ploidy in X chromosomes for -0/--missing-to-ref (9f83767)

v2.12.0

23 Apr 05:52
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2.12.0 (2024-4-23)

The primary goal for this release is to fix issue #180, that happens when multiple diplotypes are matched for genes related to warfarin.

Beginning with this release, we will also be releasing Docker images that run on the linux/arm64 architecture. This means those running PharmCAT on Macs with Apple silicon will see a dramatic performance improvement.

Features

  • pharmcat: support more than one outside call file (154ac49)
  • pipeline: add the feature of bypassing the gVCF check to the pipeline (d38005e)

Bug Fixes

  • add json2tsv script (dfabdc1)
  • namedallelematcher: improve VCF warnings (1659e21)
  • pharmcat: add to path in docker container to fix running scripts (57a956b)
  • phenotyper: strip gene symbol prefix from outside call diplotype alleles (940f6cf)
  • reporter: add "Activity Value" prefix to formatted function (8735554)
  • reporter: avoid exception for multiple phenotypes or activity scores for warfarin (da65834), closes #180
  • reporter: fix display of function/activity in variant position section (2181f31)
  • reporter: no tags for CPIC warfarin report (3842c1f)

v2.11.0

26 Mar 05:37
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2.11.0 (2024-3-26)

Features

Bug Fixes

  • datamanager: make sure we remove obsolete data files (da21f6e)

v2.10.0

25 Mar 21:26
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2.10.0 (2024-3-25)

Features

  • data: update to CPIC v1.38 and latest PharmVar (560bdb8)
  • pharmcat: report RYR1 using lowest-function gene algorithm (596058a)
  • preprocessor: an option to not perform a gVCF check (209f68f), closes #174

Bug Fixes

  • data: update data (984c73a)
  • namedallelematcher: update DPYD HapB3 support for HapB3 intronic allele (b32b4ae)
  • preprocessor: improve message for gVCF (2d4da7d), closes #174
  • reporter: add check for multiple conflicting phenotype/activity values (b9b1cd1)
  • reporter: fix edge-case for outside calls of AS genes that only specify phenotype and not score (1321518)
  • reporter: fix genotype display when no genotype is provided in outside call (1be5c6d)
  • reporter: fix missing phenotype and activity score in drug section of HTML report (e3f1029)
  • reporter: standardize naming (29e3900)

Performance Improvements

  • diplotype-comparator: reduce runtime (d17ca4a)

Reverts

  • revert message annotation update (6cf0e3b)

v2.9.0

17 Jan 21:55
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2.9.0 (2024-1-17)

Features

  • data: update to CPIC version v1.35 (5cb6717)
  • data: update to PharmGKB version 2023-12-19 (66c49f9)
  • reporter: add new "non-match" type of message (f5df05a)

Bug Fixes

  • namedallelematcher: DPYD matching should ignore find-combinations mode (153853a)
  • namedallelematcher: improve AD number warning (9d9a0b9), closes #168
  • phenotyper: fix bug with stripping gene symbol from outside call diplotypes (cb97898), closes #161

Performance Improvements

  • improve runtime of diplotype comparison (406930c)