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quinlan-lab / pathoscore

pathoscore evaluates variant pathogenicity tools and scores.
MIT License
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saturation mutagenesis of PTEN #69

Open brentp opened 4 years ago

brentp commented 4 years ago

from this paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986715/

table S6 has > 7,000 scores from the experiment.

genomic positions for some of these are available in the other tables, probably easieast way is to generate a VCF with all genomic positions for PTEN, annotate with VEP, then create a lookup table from e.g. Ala328Gln to genomic position.

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