Author

Francesco De Santis

University of Applied Sciences and Arts of Southern SwitzerlandORCID 0009-0008-3501-963XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

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Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

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Daniele MalpettiiD· 1 shared Francesca MangiliiD· 1 shared Francesco GualdiiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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1 shared paperBioinformatics

Daniele MalpettiORCID

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1 paper

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BioinformaticsbioRxivPreprintSep 17, 2026

Integrating Genomic Annotations and Traits Dependencies for single-nucleotide polymorphisms Prioritization with Causal Concept Bottleneck Models

Francesco De Santis, Daniele Malpetti, Francesco Gualdi, Francesca Mangili

The paper introduces C2BM, a deep learning model that improves SNP prioritization by integrating genomic annotations and trait relationships, showing better predictions when related trait labels are available.

DOI 10.64898/2026.09.04.749112

GWAS summary statisticsdeep learning

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