Author

Mauro Pala

Institute of Genetic and Biomedical ResearchORCID 0000-0002-3165-5291Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:differential expression· 2 Organism:human· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

David SchlessingeriD· 2 shared Francesco CuccaiD· 2 shared Marco MasalaiD· 2 shared Andrea MaschioiD· 1 shared Antonella MulasiD· 1 shared Boxiang LiuiD· 1 shared Brunilda BalliuiD· 1 shared Carlo SidoreiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David SchlessingerORCID

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3 papers

Recent·Most cited

COLSTATS: an interactive web platform for systematic colocalization of GWAS and QTL summary statistics

Maria Antonietta Diana, Stefano Onano, Marco Masala, Davide Murrau, Cucca Francesco, Federico Andrea Santoni, Mauro Pala

COLSTATS provides a web platform for colocalizing GWAS and QTL summary statistics to identify shared genetic determinants.

bioRxiv · Jan 28, 2026 · PreprintBioinformatics

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.

Fabio Busonero, Maristella Steri, Valeria Orrù, Gabriella Sole, Stefania Olla, Michele Marongiu, Carlo Sidore, Sandra Lai, Antonella Mulas, Andrea Maschio, Magdalena Żołędziewska, Matteo Floris, Mauro Pala, Paola Forabosco, Isadora Asunis, , Francesco Cucca

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

British Journal of Haematology · Nov 20, 2020Peer-reviewedGenetic & Genomic Medicine

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

Brunilda Balliu, Matthew G. Durrant, Olivia M. de Goede, Nathan S. Abell, Xin Li, Boxiang Liu, Michael J. Gloudemans, Naomi L. Cook, Kevin S. Smith, Mauro Pala, Francesco Cucca, David Schlessinger, Siddhartha Jaiswal, Chiara Sabatti, Lars Lind, , Stephen B. Montgomery

The paper analyzes gene expression and splicing changes in human aging using longitudinal RNA sequencing data from the PIVUS study, finding stability in most genetic regulation but dynamic changes in a subset of genes.

bioRxiv · Jan 13, 2019 · PreprintGenomics