Author

Alfonso Trezza

University of SienaORCID 0000-0002-3304-1066Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Research Focus:GWAS / association mapping· 1 Assay:protein structure· 1 Research Focus:protein structure prediction· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ottavia SpigaiD· 2 shared Agnese Verzuri· 1 shared Agostino OgnibeneiD· 1 shared Agostino RivaiD· 1 shared Alessandra VergoriiD· 1 shared Alessandro BrusellesiD· 1 shared Alfredo BruscoiD· 1 shared Alice Donati· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersBioinformatics

Ottavia SpigaORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintOct 20, 2022

Some Mendelian Disorders could be fixed with a pill? A Structural Bioinformatic investigation

Pietro Bongini, Daniele Iovinelli, Alfonso Trezza…·Neri Niccolai

The paper investigates Gly mutations in Mendelian disorders using ClinVar data, finding that bulky hydrophobic amino acid substitutions reduce protein stability and that Gly mutations may create binding pockets targetable for drug development.

DOI 10.1101/2022.10.20.513070

humanprotein structure

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedJul 17, 2020

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti, Rossella Tita, Ottavia Spiga…·Carmelo Piscopo

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.

263 citationstop 2%

humanwhole-exome sequencing

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