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Releases: anand-imcm/pb-variant-call

v1.2.8

27 Mar 08:58

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Changelog

All notable changes to this project will be documented in this file.

[1.2.8] - 2025-03-19

Upgraded

  • Variant caller: deepvariant:1.8.0
  • Annotator: ensembl-vep:release_113.3
  • Annotation source: Ensembl release 113 (Produces both RefSeq and Ensembl annoations)
  • ClinVar: release 2025-03-12

Fixed

  • Summary script to handle the updated VEP annotation fields.

[1.2.7] - 2024-10-11

Added

  • Script to generate a summary table for depth of coverage per gene.

Updated

  • Docker registry from DockerHub to GitHub to avoid DockerHub's rate limit restrictions.
  • Dynamic runtime and bootdisk for handling PAPI error code 9.

[1.2.6] - 2024-06-24

Fixed

  • Input to accept both fastq.gz and .fastq file format to the workflow.

[1.2.5] - 2024-02-19

Added

  • Variant Filter based on QUAL > 30
  • Filtered variants summary module now generates a variant-level summary .tsv file for all the variants based on the new filter criteria.
  • VAF summary removed.

[1.2.4] - 2024-02-19

Added

  • VEP annotation for structural variants.
  • VEP annotated SV VCF to TSV -> Useful in filtering/sorting annotation data.
  • Github Actions upgrade

[1.2.3] - 2024-01-31

Added

  • VEP annotated VCF to TSV -> Useful in filtering/sorting annotation data.

[1.2.2] - 2024-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2024-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2024-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.7

11 Oct 12:31

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Changelog

All notable changes to this project will be documented in this file.

[1.2.7] - 2024-10-11

Added

  • Script to generate a summary table for depth of coverage per gene.

Updated

  • Docker registry from DockerHub to GitHub to avoid DockerHub's rate limit restrictions.
  • Dynamic runtime and bootdisk for handling PAPI error code 9.

[1.2.6] - 2024-06-24

Fixed

  • Input to accept both fastq.gz and .fastq file format to the workflow.

[1.2.5] - 2024-02-19

Added

  • Variant Filter based on QUAL > 30
  • Filtered variants summary module now generates a variant-level summary .tsv file for all the variants based on the new filter criteria.
  • VAF summary removed.

[1.2.4] - 2024-02-19

Added

  • VEP annotation for structural variants.
  • VEP annotated SV VCF to TSV -> Useful in filtering/sorting annotation data.
  • Github Actions upgrade

[1.2.3] - 2024-01-31

Added

  • VEP annotated VCF to TSV -> Useful in filtering/sorting annotation data.

[1.2.2] - 2024-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2024-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2024-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.6

24 Jun 13:02

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Changelog

All notable changes to this project will be documented in this file.

[1.2.5] - 2022-02-19

Added

  • Variant Filter based on QUAL > 30
  • Filtered variants summary module now generates a variant-level summary .tsv file for all the variants based on the new filter criteria.#
  • VAF summary removed.

[1.2.4] - 2022-02-19

Added

  • VEP annotation for structural variants.
  • VEP annotated SV VCF to TSV -> Useful in filtering/sorting annotation data.
  • Github Actions upgrade

[1.2.3] - 2022-01-31

Added

  • VEP annotated VCF to TSV -> Useful in filtering/sorting annotation data.

[1.2.2] - 2022-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2022-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.5

04 Mar 16:26

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Changelog

All notable changes to this project will be documented in this file.

[1.2.5] - 2022-02-19

Added

  • Variant Filter based on QUAL > 30
  • Filtered variants summary module now generates a variant-level summary .tsv file for all the variants based on the new filter criteria.#
  • VAF summary removed.

[1.2.4] - 2022-02-19

Added

  • VEP annotation for structural variants.
  • VEP annotated SV VCF to TSV -> Useful in filtering/sorting annotation data.
  • Github Actions upgrade

[1.2.3] - 2022-01-31

Added

  • VEP annotated VCF to TSV -> Useful in filtering/sorting annotation data.

[1.2.2] - 2022-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2022-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.4

19 Feb 15:36

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Changelog

All notable changes to this project will be documented in this file.

[1.2.4] - 2022-02-19

Added

  • VEP annotation for structural variants.
  • VEP annotated SV VCF to TSV -> Useful in filtering/sorting annotation data.
  • Github Actions upgrade

[1.2.3] - 2022-01-31

Added

  • VEP annotated VCF to TSV -> Useful in filtering/sorting annotation data.

[1.2.2] - 2022-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2022-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.3

15 Feb 09:28

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Changelog

All notable changes to this project will be documented in this file.

[1.2.3] - 2022-01-31

Added

  • VEP annotated VCF to TSV -> Useful in filtering/sorting annotation data.

[1.2.2] - 2022-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2022-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.2

30 Jan 16:44

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Changelog

All notable changes to this project will be documented in this file.

[1.2.2] - 2022-01-30

Fixed

  • Coverage plot artifacts -> Sort coverage data by position

[1.2.1] - 2022-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.1

26 Jan 11:33

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Changelog

All notable changes to this project will be documented in this file.

[1.2.1] - 2022-01-26

Fixed

  • Summary module -> Improved file handling by checking if the input files exist and are non-empty before opening them.
  • Summary module -> Added proper closing of file handles after reading the files.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.2.0

22 Jan 10:31

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Changelog

All notable changes to this project will be documented in this file.

[1.2.0] - 2022-01-22

Added

  • New depth of coverage plot with target genomic intervals.
  • Added a new input param to the workflow region_to_plot which contains all the genomic coordinates of MTX1, GBAP1, MTX1P1 and GBA1.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added

v1.1.0

20 Dec 15:53

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Changelog

All notable changes to this project will be documented in this file.

[1.1.0] - 2023-12-19

Added

  • Added an additional summary of variants by applying a variant allele fractions (VAF) filter of greater than 0.5 to improve the confidence of the variants.

[1.0.0] - 2023-12-16

Added