Author

Ferdinando Squitieri

Casa Sollievo della SofferenzaORCID 0000-0002-7397-1727Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

A. UrbaniiD· 1 shared Agnese GiovannettiiD· 1 shared Alessandro NapoliiD· 1 shared Alessia Squitieri· 1 shared Alicia SemakaiD· 1 shared Antonio GasbarriniiD· 1 shared Brett TrostiD· 1 shared Britt I. DrögemölleriD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperBioinformatics

A. UrbaniORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintMar 25, 2026

STRmie-HD enables interruption-aware HTT repeat genotyping and somatic mosaicism profiling across sequencing platforms

Alessandro Napoli, Niccolò Liorni, Tommaso Biagini…·Tommaso Mazza

STRmie-HD is a tool for high-resolution genotyping of HTT repeat expansions and somatic mosaicism across sequencing platforms, capturing interruptions and rare variants with high sensitivity.

DOI 10.64898/2026.03.21.713334

humanwhole-genome sequencing

GeneticsThe American Journal of Human GeneticsPeer-reviewedMay 16, 2019

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

Galen E.B. Wright, Jennifer A. Collins, Chris Kay…·Michael R. Hayden

This study identifies a genetic variant that reduces interruption between CAG and CCG repeats in the HTT gene, leading to earlier onset of Huntington disease and increased somatic instability.

201 citationstop 1%

humanDNA methylation