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#PathogenicityPrediction

Latest posts tagged with #PathogenicityPrediction on Bluesky

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Posts tagged #PathogenicityPrediction

@jsantoyo.bsky.social

6 months ago

Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants. #DNAlanguageModels #RareGeneticVariants #PathogenicityPrediction #JournalHumanGenetics
www.nature.com/articles/s10...

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@pp0196.bsky.social

10 months ago

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DS-MVP: identifying disease-specific pathogenicity of missense variants by pre-training representation Abstract. Accurately predicting the pathogenicity of missense variants is crucial for improving disease diagnosis and advancing clinical research. However,

academic.oup.com/bib/article/...
#PathogenicityPrediction #xgboost #VEP #Bioinformatics

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