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feat: new Loss-of-Function variant data from OTAR2075 #991
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@vivienho How many of the variants not present in the variant index are predicted/suspected to be LOF? |
@ireneisdoomed here is the breakdown:
|
_df=( | ||
lof_dataset | ||
.select( | ||
f.from_csv(f.col("Variant ID GRCh37"), "chr string, pos string, ref string, alt string", {"sep": "-"}).alias("h37"), |
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Cool, I didn't know about the from_csv()
method!
✨ Context
The LOF variant curation from OTAR2075 provides LOF assessments in the form of five ordinal verdicts. These are converted to scores to populate the
variantEffect
(previouslyinSilicoPredictors
) field and used to generate additional variant descriptions (variantDescription
).See issue #3385 for further details.
🛠 What does this PR implement
VariantIndex
objectinSilicoPredictors
is renamed tovariantEffect
🙈 Missing
🚦 Before submitting
dev
branch?make test
)?uv run pre-commit run --all-files
)?