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Re-think delivery of
runs/metadata.json
and runs/validation_errors.json
.
#914
opened Sep 30, 2024 by
bpblanken
Improve the relatedness checking algorithm to also output clear relationships that are unexpected.
enhancement
#911
opened Sep 27, 2024 by
bpblanken
Add support for aneuploidy to the imputed sex validation.
enhancement
#906
opened Sep 23, 2024 by
bpblanken
Move sex checks out of data loading pipeline
Sex and Relatedness
#870
opened Aug 13, 2024 by
lynnpais
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
Lint/Refactor the
gencode
download.
Code Quality
Good First Issue
low priority
v3 pipeline
#609
opened Oct 31, 2023 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
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