Author

Jiawei Wu

Medical College of WisconsinORCID 0009-0002-1009-8294Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Approach:deep learning· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

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Donald BaseliD· 1 shared Michael J. MurielloiD· 1 shared Xiaowu GaiiD· 1 shared

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2025-2025 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Donald BaselORCID

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1 paper

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Genetic & Genomic MedicinemedRxivPreprintAug 8, 2025

Predicting Genetic Variant Pathogenicity Using Vector Embeddings

Jiawei Wu, Michael J. Muriello, Donald Basel, Xiaowu Gai

This paper introduces a semantic embedding framework to predict genetic variant pathogenicity using natural language descriptions and pre-trained models, achieving high accuracy across multiple genes.

DOI 10.1101/2025.08.08.25333318

humanwhole-exome sequencing