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Make sure load_data and download reference data use cached liftover files.
bug
#1011
opened Jan 9, 2025 by
bpblanken
Write remap errors and "all families failed" checks errors to validation errors files.
#1004
opened Dec 19, 2024 by
bpblanken
Investigate duplicate scores in
dbnsfp
, eigen
, mitimpact
, hmtvar
, hgmd
, splice_ai
, topmed
.
#993
opened Nov 27, 2024 by
bpblanken
Figure out how to get
airflow
to use pipeline-runner
dataproc.
#943
opened Oct 29, 2024 by
bpblanken
Add
pipeline-runner
service account with appropriate permissions.
#941
opened Oct 29, 2024 by
bpblanken
Re-think delivery of
runs/metadata.json
and runs/validation_errors.json
.
#914
opened Sep 30, 2024 by
bpblanken
Move sex checks out of data loading pipeline
blocked
Sex and Relatedness
#870
opened Aug 13, 2024 by
lynnpais
Add tests for the implemented migrations.
Code Quality
low priority
#862
opened Aug 5, 2024 by
bpblanken
Pipeline should check the integrity of the metadata.json generated during a run.
bug
#859
opened Aug 1, 2024 by
bpblanken
Audit of Sample QC Genetic Ancestry Imputation on gnomAD v2+CMG vs gnomAD v4 Model
Seqr Sample QC
#853
opened Jul 26, 2024 by
matren395
Map fields produced by seqr sample qc pipeline to UI fields in seqr.
Seqr Sample QC
#849
opened Jul 26, 2024 by
bpblanken
Migrate from
nose
to a different unittest provider
Code Quality
#600
opened Oct 26, 2023 by
bpblanken
Port Seqr-Sample-QC into
v03_pipeline
Epic
Seqr Sample QC
v3 pipeline
#544
opened Jul 25, 2023 by
bpblanken
Add SQUIRLS in silico splice annotations
blocked
Reference Data
v3 pipeline
#318
opened Mar 7, 2022 by
anneodonnell
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