Recent Releases of https://github.com/broadinstitute/gatk-sv
https://github.com/broadinstitute/gatk-sv - v1.1
GATK-SV v1.1 includes major single-sample pipeline upgrades such as improved filtering and a new reference panel, alongside updates to the joint calling pipeline.
Updates include
Single-sample pipeline
- Single-sample pipeline updates
- Add filtering
- New reference panel
- Run Scramble by default
- Reference panel creation notebook
- and more
- Revert format detection changes to MakeBincovMatrix
Joint-calling pipeline functionality
- Enable DRAGEN-SV as a caller in cohort mode
- Enable outlier sample exclusion from training in TrainGCNV and GenerateBatchMetrics
- Add denoised copy number plots and stratified variant counts to EvidenceQc outputs
Minor changes and bug fixes
- Zip regeno coverage medians file
- Update SVConcordance.wdl to enable stratified matching
- Update reference genome in depth plots
- Fix code path in EvidenceQc when run_ploidy is false
- Bug fix missing sample ID in median coverage
- Enable passing a threshold to govern the window for detection of dispersed deletions
- Handle zero-length arrays in JoinRawCalls
sv-shell (WDL-independent pipeline-in-progress)
- WDL-independent version of GatherSampleEvidence
- Log stdout and stderr of tasks in
sv_shell - Implement a bash version of the Evidence QC workflow
CI/CD
- Disable automated sv-shell and scramble docker updates temporarily while addressing R package installation issues
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0.5...v1.1
- Python
Published by epiercehoffman 6 months ago
https://github.com/broadinstitute/gatk-sv - v1.0.5
What's Changed
Bug fixes
- Remove sorting from SVConcordance to align with the updated GATK tool
- Keep EV as int when reformatting legacy genotyped VCFs
Miscellaneous
- Update image links to address page scrolling issues on our website
- Fix typo in argument in stitchfragmentedCNVs.sh
- Update issue templates
- Update shell flags for consistency and deprecate outdated bincov code path in MakeBincovMatrix
- Fix BND header description
- Deprecate ShardedCluster.wdl
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0.4...v1.0.5
- Python
Published by epiercehoffman 8 months ago
https://github.com/broadinstitute/gatk-sv - v1.0.4
What's Changed
Critical
The AnnotateVcf workflow configuration in Terra has been corrected to take the filtered VCF as input.
* If you have processed a cohort with GATK-SV in Terra and you have run FilterGenotypes, you should be aware that the AnnotateVcf output may not be filtered.
* You can tell whether a VCF has been through filtering by looking for the NCR INFO field in the header - if it’s there, FilterGenotypes has been applied.
* To address this, copy the updated AnnotateVcf workflow from the featured workspace to get the new input configuration, and update the gatk_docker in Workspace Data to match the featured workspace.
Bug fixes
- Update GATK docker with CPX interval sorting fix for SVAnnotate
- CPU configuration workaround for RealignSoftClippedReads
- Enable non-existent INFO/EVIDENCE fields in input VCF for breakpoint overlap filtering in ResolveComplexVariants
Miscellaneous
- Remove hail-based VCF merging
- Update website regarding GATK forum
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0.3...v1.0.4
- Python
Published by epiercehoffman 9 months ago
https://github.com/broadinstitute/gatk-sv - v1.0.3
What's changed
Critical
This release includes a fix for a bug introduced in v1.0.2 that affects GQ values and may have impacts on filtering. We recommend that users who ran the CombineBatches workflow with version v1.0.2 or v1.0.2-hotfix should update CombineBatches and CleanVcf to v1.0.3 and rerun the workflows from CombineBatches until the end of the pipeline. More details in #796.
Pipeline resources
- Update GTF to GENCODE v47, and add reusable GTF preprocessing script
Bug fixes
- Address rare edge cases in RefineComplexVariants
- Fix MainVcfQc.IdentifyDuplicates to resolve NoneType mismatches
CI/CD
- Update the OS version of the Action runners, and make the corresponding changes to the docker build CI/CD action
- Add the de novo pipeline to Dockstore integration
- Remove carrot tests
- Use
communicate()with Python subprocess
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0.2-hotfix...v1.0.3
- Python
Published by epiercehoffman 11 months ago
https://github.com/broadinstitute/gatk-sv - v1.0.2-hotfix
This release is a hotfix addressing a bug introduced in v1.0.2 that caused ClusterBatch to fail.
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0.2...v1.0.2-hotfix
- Python
Published by epiercehoffman about 1 year ago
https://github.com/broadinstitute/gatk-sv - v1.0.2
What's Changed
Core updates
- Update CombineBatches workflow
- Update to gnomAD-SV-v4 for external AF annotation
- Create SampleQC and Batching notebooks
- Remove internal workflows and scripts (migrated to gatk-sv-internal repo)
Bug fixes
- Fix handling of multiallelic GTs with low copy number
- Fix bug that results in an empty Vapor report
- Fix IntegrateGQ.sh errors due to presence of variants of just one type
- Reorder PED file columns in SampleQC notebook
Ease of use
- Add VCF input option to Vapor WDL
- Make functional annotation optional if no GTF/BED provided
- Small fixes to sample QC notebook
Documentation and input templates
- Updates to EvidenceQC templates
- Add joint calling link to documentation
- Remove mention of variant filtering from GenerateBatchMetrics documentation
- Update gatk docker on azure
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0.1...v1.0.2
- Python
Published by epiercehoffman about 1 year ago
https://github.com/broadinstitute/gatk-sv - v1.0.1
What's Changed
Bug fixes
- Fix for normalize_counts() in GenerateBatchMetrics
- Modify EvidenceQC to not create/expect additional column in median coverage file
- Fix multiallelic genotypes for biallelic CNVs
Documentation
- Add links to GATK forums and joint calling workspace
- Replace relative paths with abs paths to JS components
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v1.0...v1.0.1
- Python
Published by epiercehoffman over 1 year ago
https://github.com/broadinstitute/gatk-sv - v1.0
Welcome to v1.0 of GATK-SV! With this release, we are deprecating MELT in favor of Scramble, adding downstream filtering and refinement steps to the core pipeline and Terra workspace, moving our documentation to our website, and getting ready to release our public Terra workspace for the joint calling mode of GATK-SV.
Updates include
Pipeline functionality
- Improve Scramble accuracy for BWA and Dragen 3.7.8
- Refine complex variants and translocations
- Filter wham-only DELs and scramble-only SVAs in CleanVcf
- Update GATK to 4.6.0.0 in svpipelinedocker
- Resolve incorrect mCNV genotype counts for hom-alt
- Updates to EvidenceQC for sample QC analysis
- Enhance EvidenceQC outputs to better align with sample QC
- Add Scramble metrics to the qc table generated in EvidenceQC
- Rename high & low overall outliers columns generated via EvidenceQC
- Leave empty genotypes in CleanVcf part 5
- Add check for duplicate records to MainVcfQc
- Update type-checking in RdTestV2 to be class-based
Documentation
- Move documentation to website
- Update docs on creating samplesetset
- Update GatherSampleEvidence & TrainGCNV docs
- Update the landing page of the docs
- Add genotype filtering Terra workflow configs and documentation
- Include SVTK documentation in README
For developers
- Deprecate Google Cloud configuration JSONs
- Add the single-sample pipeline to the Dockstore automation
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.29-beta...v1.0
- Python
Published by epiercehoffman over 1 year ago
https://github.com/broadinstitute/gatk-sv - v0.29-beta
What's Changed
Critical
This release includes a critical bug fix to the SplitVariants task in GenotypeBatch. The affected workflow was GenotypeBatch, and the affected version was v0.28.5-beta. We recommend immediately updating to v0.29-beta. If you ran GenotypeBatch with v0.28.5-beta, please check if any records were dropped. If in doubt, re-run with v0.29-beta. More details in #712
Pipeline functionality updates
- Integrate ReshardVcf into ResolveComplexVariants
- Remove CHR2 and END2 from INS in CleanVcf
- Fix --par arg to compute_AFs.py in ShardedAnnotateVcf
- Updates to allele frequency annotation fields
- Grouped MEIs with insertions in splitvariants.py
Performance improvements
- Reimplement ParseGenotypes in GenotypeComplexVariants
- Reduce memory usage in GenotypeSRPart1
- Set the default disk size in AnnotateIntervals as a function of input files size
- Making the Vapor plots optional to store as a final output
- Make per-sample QC plots optional in MainVcfQc
Fixing bugs and small annoyances
- Skip subsampling if batch size is less than nsamplessubsample
- Add NonZeroReferenceLengthAlignmentReadFilter read filter to CollectSVEvidence
- Prevent sample ID mangling in WGD computation
- Update gatk docker with changes to handle CPX_TYPE for CTX
- Fix UnboundLocalError in EvidenceQc
- Update gnomad-v2 sample-level benchmarking data path
Documentation
- Terra dashboard updates
- Reorganize docs on running the pipeline
- Add CONTRIBUTING.md
- Update Docusaurus and its dependencies to v3.3.2
- Update docs on building and hosting Docker images
- Update docs on building inputs
- Add documentation for rename_samples in GatherBatchEvidence
CI/CD, workflow organization, and auxiliary scripts
- Deprecate single-batch Terra configs
- Add support for incomplete workflows in getinputsoutputs.py
- Trigger WDL tests on changes to /inputs and fix Terra config tests
- Update deprecated Pandas append operation for monitoring log analysis
- Extend the list supported syntax-highlighting languages
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.28.5-beta...v0.29-beta
- Python
Published by epiercehoffman over 1 year ago
https://github.com/broadinstitute/gatk-sv - v0.28.5-beta
Updates
GatherSampleEvidence * Copy or move the files instead of creating symlinks in the LocalizeReads task for compatibility with CoA/TES * Make LocalizeReads optional * Make manta region bed index required * Make MELT scripts independent of the execution path
Main pipeline
* Rewrite SplitVariants in TasksGenotypeBatch.wdl
* Disable MakeCohortVcfMetrics by default
* Find CN field for mCNVs in MainVcfQc without hard-coding order of format fields
* Update BEDTools version to 2.31.0
* Two small bugfixes to EvidenceQc
* Update gatkdocker with CPX annotation changes to SVAnnotate
* Reduce redundant docker image inputs: `svpipelinebasedocker,svpipelinehaildocker,svpipelineupdatesdocker,svpipelinerdtestdockerall now justsvpipeline_docker`
Downstream filtering * Reduce SVConcordance memory usage * Release AoU filtering model * Make the ploidy table a workflow output instead of an intermediate * Change Vapor bed preprocessing errors to warnings * Genotype filtering training labels and cutoff optimization
Misc. * Add ReshardVcf workflow * Setup automatic updates to WDLs on Dockstore * Trivial change to sv-pipeline-virtual-env * Add a preview version of the de-novo pipeline
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.28.4-beta...v0.28.5-beta
- Python
Published by epiercehoffman almost 2 years ago
https://github.com/broadinstitute/gatk-sv - v0.28.4-beta
Updates include
SV discovery algorithms: * Update manta to 1.6.0 * Optimize Scramble
New functionality: * Add PED file validation to GatherBatchEvidence and as standalone script
Documentation and CI/CD: * Add Scramble docker to the build script & update docs * Clarify single-batch vs. multi-batch workflows in cohort mode Terra workspace on dashboard
Updates and bug fixes: * Remove redundant GetPed task in GatherBatchEvidence.CNMOPS * Make genometracks optional in FilterGenotypes * Toggle Collect PESR/Counts in GatherSampleEvidence with booleans * Fix allosomeslist bug * Filter mCNVs under 5kbp * Remove hgdp1kgpped test batch input from MainVcfQc template * Fix melt insert size input type in EvidenceQC * Correct use of optimizevcfrecordspershard in FilterGenotypes * Update JoinRawCalls formatter arg in template * Check for empty scatter in GenotypeDepthPart2 * Make the Cromwell root config in the MELT workflow portable
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.28.3-beta...v0.28.4-beta
- Python
Published by epiercehoffman over 2 years ago
https://github.com/broadinstitute/gatk-sv - v0.28.3-beta
Updates include
- Remove CHR2 and END2 for CPX at the end of CleanVcf
- Add TSV rename map option to RenameVcfSamples
- Add required index files to hg38 resources
- Add Docker images build instructions to the docs
- Add PlotSVCountsPerSample subworkflow to the end of ClusterBatch and FilterBatchSites
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.28.2-beta...v0.28.3-beta
- Python
Published by epiercehoffman over 2 years ago
https://github.com/broadinstitute/gatk-sv - v0.28.2-beta
Updates include
- Add high-level description of docker images and their build process
- Remove max GQ filtering from per sample QC
- Update protein-coding GTF to MANE v1.2
- Reference panel resources and critical bug fixes
- Add FilterGenotypes workflow
- Remove use of the file command
- Move PESR genotyping filter statuses to info fields
- Bug fix building samtools-cloud docker
- Bug fix Github actions out of disk error
- Sharded AnnotateVcf workflow
- Add Terra validation to Github actions
- Resolve new linting errors
- Deduplicate records and CPX variant IDs in ResolveComplexVariants
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.28.1-beta...v0.28.2-beta
- Python
Published by epiercehoffman over 2 years ago
https://github.com/broadinstitute/gatk-sv - v0.28.1-beta
This release incorporates the updated docker images from v0.28-beta.
Updates
- Fix a bug committing changes to dockers_*.json after an image is updated
- Delete some commented lines in dropemptyrecords.py to prompt docker build
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.28-beta...v0.28.1-beta
- Python
Published by epiercehoffman over 2 years ago
https://github.com/broadinstitute/gatk-sv - v0.28-beta
Note: This version corresponding to v0.28-beta does not have updated docker images. The docker image updates are now reflected in v0.28.1-beta so that version should be used instead.
What's changed
Improvements to SR genotyping and INS breakpoints: * Update SR counting and genotyping
Filtering workflows: * Update ApplyManualVariantFilter json template * Update VaPoR workflows * SVConcordance workflows update * Fix CTX END2 error in GATK formatting script
Other workflows: * Fix non-deterministic errors in GetSampleIdsFromVcfTar * make the RunMELT task a little more robust * Improve STR workflow * Remove DeleteIntermediateFiles task * Remove unused ped_file input from GenotypeBatch and RegenotypeCNVs
Docker build: * Manually install MASS R package in sv-pipeline-virtual-env * Build and publish images to multiple registries in one job, & update the dependencies of the action
Other scripts, docs, and JSONs: * Update copy_outputs.py * Generate Terra workspace tsv files from transposed tables * Update README to link to SV callers used * Remove ped file from workspace data TSV for cohort mode terra workspace
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.27.3-beta...v0.28-beta
- Python
Published by epiercehoffman over 2 years ago
https://github.com/broadinstitute/gatk-sv - v0.27.3-beta
What's Changed
- Update README for docker build script
- Fix for tiny shard of IntegrateGQ in single sample pipeline
- Set minimum PE count of 1 during genotyping
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.27.2-beta...v0.27.3-beta
- Python
Published by epiercehoffman almost 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.27.2-beta
What's Changed
- Add missing space in functional annotation to enable optional settings
- Eliminate cram to bam conversion when possible
- Add ref panel inputs for MakeCohortVcf subworkflows
- Extend STR workflow to collect additional locus-level metrics
- Change ref allele to N if unsupported during vcf standardization
- Add sample renaming for SD files in GatherBatchEvidence
- Remove vcf header contig sorting in CleanVcf5
- Add support for building dockers for multiple registries
- Remove non-public images from the git-sha-based target determination in docker build script
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.27.1-beta...v0.27.2-beta
- Python
Published by epiercehoffman almost 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.27.1-beta
What's Changed
- Add handling for Flag vcf fields to vcftopandas
- Add outlier samples list & count outputs to PlotSVCountsPerSample
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.27-beta...v0.27.1-beta
- Python
Published by epiercehoffman almost 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.27-beta
What's Changed
- New RdTest mode for very large variants
- Updates to the documentation website, its build action, and the Algolia configuration
- CleanVcfPart5 fix
- Add legacy file support for BatchEvidenceMerging
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.10-beta...v0.27-beta
- Python
Published by epiercehoffman almost 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.10-beta
Updates
- Update WDLs to adhere with implicit coercions requirement
- Update the style of
build_docker.py - Remove depth vcf from pesr merging in FilterBatchSamples
- Maintain a mirror of images on GCR and ACR
- Set target images for Azure based on commit SHA
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.9-beta...v0.26.10-beta
- Python
Published by epiercehoffman almost 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.9-beta
Updates
- Fixes an bug in the single sample pipeline that caused too many variants to be filtered with REFPANELGENOTYPES
- Updates to GitHub Actions and the docker build process
- Includes mCNVs in per-sample QC plots in MainVcfQc
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.8-beta...v0.26.9-beta
- Python
Published by cwhelan about 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.8-beta
Updates
- De-duplicate variant IDs in analyze_fams.R and improve style/spacing
- Add workflow to apply bcftools hard variant filter
- Add wrapper workflow to call SubsetVcfBySamplesList task to include or exclude a list of samples
- Update CollectSVEvidence argument names to match latest version of GATK tool
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.7-beta...v0.26.8-beta
- Python
Published by epiercehoffman about 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.7-beta
- Fixes slight allele count bias in SD file generation
- Fixes SDToBAF filtering het sites too stringently
- Python
Published by mwalker174 about 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.6-beta
Updates
- Create CODEOFCONDUCT.md
- Combine multiple EvidenceQC outputs used for sample QC and batching into one convenient table
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.5-beta...v0.26.6-beta
- Python
Published by epiercehoffman about 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.5-beta
Updates include
- HailMerge womtool validation fix
- Replace EH version with its current latest release
- Update WDLs to adhere with the miniwdl requirements and add miniwdl validation to CI/CD
- Add VisualizeCnvs workflow
- GATK vcf formatting script fixes
- Install git lfs and add tracking png and jpg files
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.4-beta...v0.26.5-beta
- Python
Published by epiercehoffman about 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.4-beta
Updates
- Various updates to make WDLs validate with MiniWDL
- Fix issues in definitions of pesr exclude list and sd files in single sample pipeline Terra workspace template files
- Update terra pipeline diagram to reflect v0.26.3-beta
- ExpansionHunter: Fix a bug in generating realigned BAM in the output of EH, add support for the seeking option, create an empty timing file in case it is not created, change the default max depth of inheritance & update help
- Update gatk to include CollectSVEvidence bug fix
- Hook up WGD runtime attribute overrides
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.3-beta...v0.26.4-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.3-beta
Updates
- Various small fixes to documentation
- Add genotype concordance workflows
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.2-beta...v0.26.3-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.2-beta
Updates
- Option to map between internal and external sample IDs for per-sample benchmarking in MainVcfQc
- Set disk to at least 10 gb in VaPoR tasks
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26.1-beta...v0.26.2-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26.1-beta
Updates
- Option to input & subset multi-sample BED in VaPoR (+ womtool fixes)
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.26-beta...v0.26.1-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.26-beta
What's Changed
- Adds sv-utils, a python package that supports GQ filtering and benchmarking, and updates the GQ filtering WDLs
- Removes Delly and related commands from the pipeline
- Fixes a bug in the single sample pipeline caused by records with missing depth genotypes and no PE or SR support
- Improves ExpansionHunter JSON to TSV conversion when the JSON is missing LocusResults
- Improvements to the script validating WDLs using miniwdl
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.25.1-beta...v0.26-beta
- Python
Published by cwhelan over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.25.1-beta
Updates
- Log a warning when merging EH JSON files if a file does not contain LocusResult
- Standardize scramble output
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.25-beta...v0.25.1-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.25-beta
Updates
- Rework MasterVcfQc --> now MainVcfQc with enhanced functionality
- Modify VaPoR settings
- MiniWDL validation script
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.24.3-beta...v0.25-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.24.3-beta
Updates
- Improve on Scramble integration
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.24.2-beta...v0.24.3-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.24.2-beta
Updates
- Output VaPoR header with # in front
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.24.1-beta...v0.24.2-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.24.1-beta
Updates
Two bug fixes in GenotypeComplexVariants: in ParseGenotyping and ConcatCpxCnvVcfs tasks
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.24-beta...v0.24.1-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.24-beta
Updates include:
- ExpansionHunter: Improvements on scaling the EH WDL to more batches, Convert EH JSON to TSV
- Docker build: Decrease disk usage building dockers on GitHub, Build STR docker image using the build_docker script, Decrease docker count, Enable docker build on m1 macs
- svtk vcfcluster: Bug fixes, Performance optimization, Fix STRANDS and EV related errors
- Add GqRecalibrator WDLs and input templates
- Early BAF generation from CRAMs
- Switch to new CondenseDepthEvidence GATK tool
- Run the 5 subworkflows of MakeCohortVcf as separate steps in Terra
- Integrate GATK SVCluster into ClusterBatch
- Handle low PE cutoff in genotyping
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.23-beta...v0.24-beta
- Python
Published by epiercehoffman over 3 years ago
https://github.com/broadinstitute/gatk-sv - v0.23-beta
Updates
- Increment the EH version in its Dockerfile to the current latest release
- Increase memory in PostprocessGermlineCNVCalls to original
- Check for scramble in breakpoint overlap filter
- Use GATK tool SVAnnotate for functional consequence annotation
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.22-beta...v0.23-beta
- Python
Published by epiercehoffman almost 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.22-beta
Updates: * Fix ENDs and rescale GQ to [0,99] at end of CleanVcf * Authentication for CI/CD bot to update docker images * Replace Array[File] with File inputs in single-sample pipeline
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.21-beta...v0.22-beta
- Python
Published by epiercehoffman almost 4 years ago
https://github.com/broadinstitute/gatk-sv - Hotfix for v0.9.1-beta-hotfix: v0.9.1-beta-hotfix2
Hotfix for previous release v0.9.1-beta-hotfix: the state of the pipeline is the same as release v0.9.1-beta-hotfix but fixes a regression in Whamg.wdl. See #332. This tag does not reflect the latest version of the GATK-SV pipeline.
- Python
Published by epiercehoffman almost 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.21-beta
Updates include
- Single sample pipeline fixes for MakeCohortVcf
- Add minGQ_NCR INFO field
- Migrate to 1KGP reference panel for testing
- Build docker updates
- Add option to run Scramble
- GATK docker updates
- Option to provide credentials JSON to access CRAMs
- Fix bug in Whamg
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.20.2-beta...v0.21-beta
- Python
Published by epiercehoffman almost 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.20.2-beta
Updates: * Add TrainGCNV input specifying subset list of samples for training #294
- Python
Published by epiercehoffman about 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.20.1-beta
Updates include: #290
- Python
Published by epiercehoffman about 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.20-beta
Updates include: Scaling updates and bug fixes to MakeCohortVcf implemented as part of processing gnomAD-SV-v3.
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.19.4-beta...v0.20-beta
- Python
Published by epiercehoffman about 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.19.4-beta
Updates include: * Tweaks to AnnotateVcf workflow (#283) * Updates to ExpansionHunter (#276, #281, #282) * CI/CD updates (#268, #273)
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.19.3-beta...v0.19.4-beta
- Python
Published by epiercehoffman about 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.19.3-beta
Changes include: * remove bgzip for already-gzipped file in XfBatchEffect.GetFreqTable in https://github.com/broadinstitute/gatk-sv/pull/270 * Add subset ped step at start of CleanVcf in https://github.com/broadinstitute/gatk-sv/pull/250
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.19.2-beta...v0.19.3-beta
- Python
Published by epiercehoffman about 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.19.2-beta
Updates include: * Drop variants with NA scores in FilterBatchSites * Efficiency fix for getting male-only variants on chrX in GenerateBatchMetrics * Docker build updates
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.19.1-beta...v0.19.2-beta
- Python
Published by epiercehoffman about 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.19.1-beta
Just #258: fix typo in runtime attributes in AnnotateVcf.wdl
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.19-beta
Updates include: * Clean up file headers * Bug fix for handling male-only events on chrX in GenerateBatchMetrics (again) * Expose runtime attributes in AnnotateVcf.wdl
Full Changelog: https://github.com/broadinstitute/gatk-sv/compare/v0.18.5-beta...v0.19-beta
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.18.5-beta
Updates include: * Set MELT JVM memory based on machine memory available at runtime, so that out-of-memory issues can be resolved by increasing VM memory
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.18.4-beta
Updates include: * Add WDL for GangSTR * Remove subprocesses in MakeRdTestBed in ClusterBatch for error propagation
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.18.3-beta
Updates include: * Expose runtime attributes for metrics workflows * Replace nested scatter in TinyResolve with subworkflow * Fix bug in GenerateBatchMetrics that may cause chrX events appearing only in males without read depth support to be filtered out
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.18.2-beta
Hotfix to CleanVcf1_23 in MakeCohortVcf affecting cohorts with sex designations other than 1 or 2 in the ped file
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.18.1-beta
Updates include: * hotfix to handle empty EVIDENCE field in MakeCohortVcf * add Terra pipeline diagram to Terra dashboard
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.18-beta
Updates include: * Super-scaling updates and fixes to MakeCohortVcf * MiniWDL compatibility fixes * Dynamic memory allocation for EvidenceQC.MedianCov * Unique output filenames in a couple of workflows * Documentation updates
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.17.4-beta
Hotfix # 2 for FilterBatch subworkflow functionality - PlotSVCountsPerSample inputs
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.17.3-beta
Hotfix for FilterBatch subworkflow functionality in Terra
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.17.2-beta
Updates include: * Documentation updates * Subdivide FilterBatch into three workflows to enable choice of IQR cutoff
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.17.1-beta
Quick fix for v0.17-beta - renaming trainGCNV to TrainGCNV consistently
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.17-beta
Updates include: * Rename pipeline modules with descriptive names * Run metrics workflows as part of main workflows for debugging info and ease of testing * For Terra, add single-batch configs for cohort-level steps
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.16-beta
Updates include: * PEP8 linting of all python scripts * Fix bug in svtest * Allow missing samples for BAF collection from joint VCF or gVCFs in Module00c * Add VCF indexes to Module04b outputs to work with cromwell workflow outputs bucket
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.15.1-beta
Add option to provide file containing list of GCS paths to SNP VCF shards in Module00c because Terra has a limit on array length in inputs
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.15-beta-hotfix
Hotfix for Tasks0506.wdl cromwell compliance
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.15-beta
Changes include:
* Bug fix in a CleanVCF script
* Evaluation of additional variants in Module04b
* Enable easier skipping of Melt for Terra
* Generate median coverage files in Module00b for batching
* Reduce memory when merging genotypes in TrainRDGenotyping
* Support original sample IDs in snp_vcfs in Module00c
- Python
Published by epiercehoffman over 4 years ago
https://github.com/broadinstitute/gatk-sv - v0.14.3-beta
Includes bug fix for Module04b
- Python
Published by epiercehoffman almost 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.14.2-beta
Changes include: * Bug fixes to RDTest, affecting Module02 and Module04
- Python
Published by epiercehoffman almost 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.14.1-beta: Minor updates to v0.14-beta
Changes include: * Option to revise all non-canonical bases in BAM file to N during CramToBam (not recommended by default, as it is not optimized yet and will cost more) * Reduce default disk for Module02 test tasks * Remove old WDL headers * Fix bug in CleanVcf that occurred when a sample ID appeared in a batch/variant ID * Make read length input to CollectWgsMetrics for MELT in case read length differs from default 150bp
- Python
Published by epiercehoffman almost 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.14-beta
Updated pre-release of cohort pipeline for Terra. Changes include: * Switch to single cohort-level ped file rather than batch ped files * Add functionality to randomly subsample input samples in trainGCNV * Bug fixes to FORMAT EV field * Updates to Module07-Module10
- Python
Published by epiercehoffman almost 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.13.1-beta Minor updates to v0.13-beta
- Fixes to Module07
- Minor changes to re-genotype filtering in Module04b for smaller cohorts
- Python
Published by epiercehoffman almost 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.13-beta
Updated pre-release of batch pipeline for Terra, incorporating changes such as: * Make outlier cutoff table input to Module03 optional to better reflect use case * Bug fixes and performance improvements to Module04b * Break-up of Module0506 into sub-workflows * Fix handling of MEI SVTYPE in Module07 * Changes reflected in v0.12-beta release
- Python
Published by epiercehoffman almost 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.12-beta
This release upgrades the single sample pipeline to work with the upgrades to gCNV and median-based re-genotyping that were implemented in the joint pipeline. Other changes include:
- Generates input JSON files and the single-sample pipeline Terra workspace files from templates
- Allows optional inputs of precomputed module00a files for the single sample pipeline
- Bug fixes for module 03 and MasterVcfQC
- Improved resource acquisition and monitoring scripts
- Implements a sample wide QC step in the single sample pipeline for samples that are outliers in coverage or WGD score
- Python
Published by cwhelan about 5 years ago
https://github.com/broadinstitute/gatk-sv - Pre-release of batch pipeline
Pre-release of batch pipeline for upcoming GATK-SV Terra workspace
- Python
Published by epiercehoffman over 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.9.1-beta-hotfix
Hotfix includes only the new bug fix for empty shards in Module07
- Python
Published by cwhelan over 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.10-beta
Additional fixes to single sample pipeline edge cases.
Upgrades gCNV to v4.1.8.1
- Python
Published by cwhelan over 5 years ago
https://github.com/broadinstitute/gatk-sv - v0.9.1-beta Fixes for edge cases in single sample pipeline
This release includes several bug fixes for v0.9-beta, most of which handle data conditions which result in empty shards that could cause workflow failures.
- Python
Published by cwhelan over 5 years ago
https://github.com/broadinstitute/gatk-sv - Single Sample Pipeline improvements
This pre-release of the single sample pipeline contains several improvements:
- PESR collection has been changed from
svtk collect-pesrto GATKPairedEndAndSplitReadEvidenceCollection. This should fix a rare issue observed on some samples in which PESR records appear out of order and are not consolidated into single rows. (https://github.com/broadinstitute/gatk-sv/pull/34) - Moves WDL parameters to the new nomenclature of include and exclude lists (https://github.com/broadinstitute/gatk-sv/pull/29)
- Fixes invalid VCF headers (https://github.com/broadinstitute/gatk-sv/pull/41)
- In the final single sample VCF output, reports reciprocal translocation events using a set of BND records linked by EVENT_ID (https://github.com/broadinstitute/gatk-sv/pull/36)
- Adds annotation with gnomAD allele frequencies to the Single Sample pipeline, and provides an additional output in BED format.
- Python
Published by cwhelan over 5 years ago
https://github.com/broadinstitute/gatk-sv - Hotfix 2 for v0.8
This fixes an issue in WHAM processing and standardization that stemmed from incomplete substituting of sample IDs that was causing all variants from WHAM to be lost.
- Python
Published by cwhelan over 5 years ago
https://github.com/broadinstitute/gatk-sv - Hotfix for v0.8
Fixes a small bug that prevented running the single sample pipeline on Cromwell instances with no local filesystem configured (including Terra's).
- Python
Published by cwhelan over 5 years ago
https://github.com/broadinstitute/gatk-sv - Pre-release for single sample pipeline
Fixes a bug in v0.8-beta that prevented the single sample pipeline from running when MELT reference-panel inputs were not given.
Aside from the single sample pipeline, the other pipelines in the repository are still not ready for release yet and should not be run in this version.
- Python
Published by cwhelan over 5 years ago