GnoMad label?
#1
by
GrimSqueaker
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Hi, could you please clarify what the "label" (true/false) is for the gnomad dataset? I read the paper, but don't understand if it's about it being a rare vs. common, or deleteriousness?
Hi, thanks for your question! We have updated the readme with some description that I copy here. Let me know if there's anything else I could clarify.
Labels
| Label | Meaning |
|---|---|
| True | Rare, singleton (AC=1) |
| False | Common (MAF > 5%) |
Note that the label does not indicate deleteriousness/pathogenicity. This is not suitable for a classification task. We recommend calculating enrichment or rare variants at the tail of model scores.
Awesome, thanks!
(PS: GnoMad variants are not necessarily distinct from pathogenic ones, they're just a recording of known variants, right?)
GrimSqueaker
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