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Add counts to annotated XML generation #371
Add counts to annotated XML generation #371
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@tcezard @M-casado I've removed the "work in progress" sample output to avoid confusion, the top-level comment has the most up-to-date info. I realise it's a big PR so feel free to focus your review on the most relevant bits. |
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Looks good. A tiny comment.
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Looks good. A tiny comment.
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Merging this to fix the memory issue in |
Count and compute simple metrics for comparing CMAT annotations with those in ClinVar. Primary functionality changes are:
map_genes.py
andmap_xrefs.py
for mapping gene symbols to Ensembl gene ID (using Biomart) and xrefs to EFO synonyms (using OLS)annotated_clinvar.py
andset_metrics.py
for actually computing the metricspipeline.nf
for hooking everything together via an optional--evaluate
parameter(Changes in
create_efo_table.py
andrepeat_variant.py
are not related, just getting some tests to be less flaky.)Sample output below: