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Can this tool also be used with human WGS data? #7

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robertzeibich opened this issue Apr 2, 2022 · 1 comment
Open

Can this tool also be used with human WGS data? #7

robertzeibich opened this issue Apr 2, 2022 · 1 comment

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@robertzeibich
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@robertzeibich robertzeibich changed the title Can this tools also be used with human WGS data? Can this tool also be used with human WGS data? Apr 2, 2022
@johli
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johli commented Feb 16, 2023

Sorry for the late response. Yes, you can use APARENT to score any set of mutations occurring within a polyA signal sequence, including variants called from WGS data. Though we don't have a particular script/notebook for that kind of analysis specifically.

Batched variant scoring example: https://github.com/johli/aparent/blob/master/misc/predict_variants/predict_variants_polyadb_no_sequences.ipynb

Also check out the newer APARENT2 model: https://github.com/johli/aparent-resnet/blob/master/examples/aparent2_score_variants.ipynb

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