Author

Francesca Mangili

SIB Swiss Institute of BioinformaticsORCID 0000-0002-3215-1028Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Assay:GWAS summary statistics· 2 Research Focus:variant effect prediction· 2 Approach:deep learning· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Daniele MalpettiiD· 2 shared Francesco GualdiiD· 2 shared Francesco De SantisiD· 1 shared Marco ScutariiD· 1 shared Zeno Darani· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

5 top collaborators · 8 mutual co-author links

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2 shared papersBioinformatics

Daniele MalpettiORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintOct 26, 2026

A Pipeline for Predicting Variant Associations with Complex Disorders via Functional Annotations

Francesco Gualdi, Zeno Darani, Daniele Malpetti…·Francesca Mangili

The paper introduces a pipeline to create curated, balanced variant-trait association datasets for complex disorders using GWAS and functional annotations.

DOI 10.64898/2026.10.21.760618

GWAS summary statisticsstatistical model

𝕏 PostBluesky

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

𝕏 PostBluesky