Author

Andrea Maschio

Institute of Genetic and Biomedical ResearchORCID 0000-0002-4238-9144Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Microbiology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:fine-mapping· 1 Research Focus:genome assembly· 1 Assay:metagenomics· 1

Frequent Co-Authors

Fabio BusoneroiD· 3 shared Carlo SidoreiD· 2 shared David SchlessingeriD· 2 shared Francesco CuccaiD· 2 shared Gonçalo R. AbecasisiD· 2 shared Magdalena ŻołędziewskaiD· 2 shared Maristella PitzalisiD· 2 shared Maristella SteriiD· 2 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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3 shared papersMicrobiology

Fabio BusoneroORCID

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3 papers

Recent·Most cited

MicrobiologymSystemsPeer-reviewedNov 25, 2025

Lactobacillus iners dominates the vaginal microbiota of healthy Italian women of reproductive age.

Elena Vinerbi, Fabio Chillotti, Andrea Maschio…·Serena Sanna

This study tracks vaginal microbiota changes in Italian women across menstrual phases, finding Lactobacillus iners as dominant and highlighting population-specific patterns and hormonal associations.

12 citationstop 2%

humanmetagenomics

Genetic & Genomic MedicineBritish Journal of HaematologyPeer-reviewedNov 20, 2020

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.

Fabio Busonero, Maristella Steri, Valeria Orrù…·Francesco Cucca

The paper identifies a rare Sardinian founder mutation in GP1BB associated with thrombocytopenia and reduced GPIb-IX-V complex expression.

2 citations

humanwhole-genome sequencing

GeneticsNature GeneticsPeer-reviewedSep 7, 2018

Population history of the Sardinian people inferred from whole-genome sequencing

Charleston W. K. Chiang, Joseph H. Marcus, Carlo Sidore…·John Novembre

This study uses whole-genome sequencing of 3,514 Sardinians to explore population history, finding genetic isolation in the Gennargentu region and sex-biased demographic patterns.

109 citationstop 2%

humanwhole-genome sequencing