broadinstitute/seqr-loading-pipelines
hail-based pipelines for annotating variant callsets and exporting them to elasticsearch
PythonMIT
Issues
- 0
Audit/Reorganize v03_pipeline feature flags.
#822 opened by bpblanken - 1
Add `rsync` of hail search data to `luigi`.
#939 opened by bpblanken - 3
Export relatedness check to TSV
#926 opened by lynnpais - 0
Write remap errors and "all families failed" checks errors to validation errors files.
#1004 opened by bpblanken - 1
Re-architect `lookup` table (yet again!)
#863 opened by bpblanken - 2
Remove `high_constraint_region_mito`
#846 opened by bpblanken - 1
Import DRAGEN metrics file into v03 pipeline.
#850 opened by bpblanken - 1
Re-think delivery of `runs/metadata.json` and `runs/validation_errors.json`.
#914 opened by bpblanken - 0
Add code to seqr-pipeline to inject seqr's HAIL_SEARCH_DATA_DIR into the pipline as SEQR_APP_HAIL_SEARCH_DATA_DIR
#937 opened by bpblanken - 0
Investigate duplicate scores in `dbnsfp`, `eigen`, `mitimpact`, `hmtvar`, `hgmd`, `splice_ai`, `topmed`.
#993 opened by bpblanken - 0
Add `RunDataprocJobTask`
#940 opened by bpblanken - 1
- 0
Handle `WriteMetadataForRun` caching bug.
#962 opened by bpblanken - 0
Add `CreateDataprocClusterTask`
#938 opened by bpblanken - 1
Update `metadata/validation_errors` to be single file, updated throughout pipeline.
#944 opened by bpblanken - 0
- 0
Deploy `pipeline-runner` on `k8s`.
#942 opened by bpblanken - 0
- 0
- 1
Clarify invalid allele validation.
#919 opened by bpblanken - 0
Improve the relatedness checking algorithm to also output clear relationships that are unexpected.
#911 opened by bpblanken - 1
- 0
Add `shellcheck` checking for bash scripts.
#905 opened by bpblanken - 0
Add `strvctvre` annotation.
#865 opened by bpblanken - 0
Move sex checks out of data loading pipeline
#870 opened by lynnpais - 0
Add tests for the implemented migrations.
#862 opened by bpblanken - 1
- 1
- 0
Audit of Sample QC Genetic Ancestry Imputation on gnomAD v2+CMG vs gnomAD v4 Model
#853 opened by matren395 - 1
Audit Sample QC Fields.
#851 opened by bpblanken - 1
Make `UpdatedCachedReferenceDatasetQuery` a dependency of `BaseUpdateVariantAnnotationsTableTask`.
#907 opened by bpblanken - 1
Manually modify composer ssd's to have `/seqr/seqr-hail-search-data` and `/seqr/seqr-reference-data` as root directories instead of `/ssd-datasets`.
#891 opened by bpblanken - 1
Create a simple http interface that responds to http POSTs and kicks off the v03_pipeline.
#821 opened by bpblanken - 1
- 1
`Delete` DAGs are failing to account for sample type in project table paths.
#909 opened by bpblanken - 1
Add automated docker builds to CI
#848 opened by bpblanken - 2
Create an updated pipeline-runner docker image that includes new VEP dependencies and v03_pipeline code.
#820 opened by bpblanken - 1
Delete ONT data
#871 opened by lynnpais - 1
- 1
Pipeline should check the integrity of the metadata.json generated during a run.
#859 opened by bpblanken - 0
- 0
Modest Audit of DRAGEN Sample QC Outputs
#852 opened by matren395 - 2
Use the `ETag` of the clinvar submission and vcf to cache our gcs temp files.
#823 opened by bpblanken - 2
Family Table write needs to consider the pedigree when determining which families to update.
#837 opened by bpblanken - 0
Pipeline failed during allele registry step because of no response variants matching reference genome.
#832 opened by bpblanken - 3
Callset Import failure due to out of order keys.
#828 opened by bpblanken - 1
- 1
Pedigree/S&R Cleanup
#794 opened by bpblanken - 0
Add `AlleleType` validation.
#784 opened by bpblanken - 1
Investigate support for running SpliceAi
#786 opened by lynnpais