Author

Kathryn Borkowski

National Institutes of Health

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Bioinformatics· 1

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

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Gaetano ManzoiD· 1 shared Ivan OvcharenkoiD· 1 shared

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2025-2025 · peak 1/yr

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1 shared paperBioinformatics

Gaetano ManzoORCID

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1 paper

Recent·Most cited

Comparative Analysis of Deep Learning Models for Predicting Causative Regulatory Variants

Gaetano Manzo, Kathryn Borkowski, Ivan Ovcharenko

This study compares deep learning models for predicting causative regulatory variants using genomic and epigenomic data from multiple datasets, finding CNN models perform best for SNP regulatory impact prediction.

Genes · Oct 15, 2025Peer-reviewedBioinformatics