Skip to content

Latest commit

 

History

History
116 lines (68 loc) · 3.93 KB

CHANGELOG.md

File metadata and controls

116 lines (68 loc) · 3.93 KB

Changelog

[v1.8.3] - 2024-01-25

Fixed

Snakemake version freezed

[v1.8.2] - 2024-01-25

Fixed

Updated the public key for GEXNT Azure storage

[v1.8.1] - 2024-01-25

Fixed

  • Updated the public key for GEXNT Azure storage, where the bundle reference file is stored.

[v1.8] - 2023-03-08

Added

  • New relatedness inference workflow was added --flow rapid. It requires phased data as input and should process 100K samples in an hour. It cannot reliably distinguish between parent-offspring and full siblings relationships yet, so it should be used only for distant degrees.
  • New configuration flags --rapid-error-rate, --rapid-min-snp, --rapid-num-runs, --rapid-num-success, --rapid-seg-len for rapid were included in launcher.
  • Outlier samples can be filtered out in preprocess workflow now, using --iqr-alpha for threshold modification. It should be used when there are a few samples with a lot more genotyped or imputed SNPs than the majority of a dataset.

Changed

  • rapid and germline-king relatedness workflows now require phase-preserving preprocessing, which can be initiated by adding a corresponding --flow flag to preprocess workflow.

Fixed

  • Postprocessing step in relatedness workflow is now capable to process large datasets thanks to polars python library.

[v1.7] - 2023-01-12

Added

  • All conda environments are now built in Dockerfile and Snakemake doesn't need to create them for every workflow run from .yaml files.
  • Multiple tests were added, covering all GRAPE flows. Test cases are stored at grape/test-cases.

Changed

  • Phased affymetrix chip is now stored within the bundle to speed up the simulation flow, because of this intersect rule in pedsim simulation workflow was moved to reference downloading workflow.

Fixed

  • Fixed ibis detecting empty IBD segments causing pipeline teardown.

[v1.6] - 2022-05-20

Added

  • New workflow for simulation of a big relatives dataset (~500k samples) was added. It's available via simbig command of the pipeline launcher.
  • Support multiple cores for the preprocessing (preprocess) workflow.
  • IBD segments weighting feature was added, see compute-weight-mask workflow and --weight-mask parameter of the pipeline launcher.
  • Several options for better control of the samples filtering were added: --missing-samples, --alt-hom-samples, --het-samples.
  • Random seed parameter was added for the Ped-sim simulation.

Changed

  • GRAPE flows were renamed in the pipeline launcnher: ibis_king -> ibis-king, germline -> germline-king.
  • readme.md and the GRAPE scheme were updated and actualized.
  • Singularity support was removed in favour of conda environments.
  • Code refactoring and clean up.

Fixed

  • Fixed germline-king simulation flow.
  • Fixed java command not found during the reference workflow evaluation.

[v1.5.2] - 2021-12-24

Added

With --flow ibis_king grape now calculates IBD1 and IBD2 shares from KING data for the 0-3 degrees.

Fixed

  • Fixed a bug with parsing ERSA output for large datasets.
  • Fixed a bug with setting every values for some rows in relatives.tsv to 2.
  • Fixed total_seg_len and total_seg_len_ibd2 calculation. Now total_seg_len corresponds to only ibd1 segments.

[v1.5.1] - 2021-12-13

Fixed

  • Bundle downloading hotfix.
  • File verification hotfix for reference workflow.

[v1.5] - 2021-12-01

Changed

  • Removed singularity from all workflows.
  • Many intermediate files are now temporary. This significantly reduces working folder size.

Fixed

  • Fixed removal of duplicate SNPs.
  • ERSA-only workflow now correctly detects duplicates or monozygotic twins.

Dockstore Release - 2021-09-28

Added

  • Dockstore support
  • Small and full bundle reference downloading from azure

Changed

  • ERSA can handle 100k samples.
  • Preprocessing saves phasing information in vcf input.
  • MAF filter is now consistent across different inputs.