I am associate professor at the University of Bologna (Italy). Till October 2016, I was Junior Group Leader at the Department of Biology, University of Düsseldorf (Germany). Previously, I was assistant professor at the Department of Pathology at the University of Alabama at Birmingham (UAB). From 2009 to 2009, I was a Marie Curie IOF researcher in the Department of Mathematics and Computer Science at the University of Balearic Islands (Spain), and in the Helix Group at the Bioengineering Department at Stanford University. I was postdoc for 3 years in the Structural Bioinformatics Unit at CIPF of Valencia (Spain) and 2 years at the University of Bologna (Italy) in the Biocomputing Group. I am PhD in physical sciences from the University of Bologna with scientific background is in Structural Bioinformatics. In the last years my research activity moved toward the study of the effect of SNPs resulting in single amino acid polymorphisms. I applied tools for the analysis of protein three-dimensional structure to predict the effect of single point protein mutations on the protein stability developing machine learning methods to evaluate the free energy change due to a given single amino acid polymorphisms (SAPs). More recently, I have been interested to study the relationship between SAPs and the insurgence of human disease. Using information derived from the protein sequence and structure analysis, I implemented new web server tools to predict disease-related protein variants. During the last years, I participated in the realization of internationals research grants that have been all successfully completed. Currently, the main goal of my research activity consists in the understanding of the relationship between genomic variations and disease using large amount of data derived from high-throughput techniques. I am interested to design new disease-specific algorithms and new tools for the personal genomics and personalized medicine.
I published 52 research articles and 11 reviews in international peer-reviewed journals with impact factor. I also published 18 between book chapters (10) and meeting reports (8). Using Google Scholar my papers received more than 6,200 citations corresponding to an h-index of 30. According to Scopus, my papers received more than 4,300 citations corresponding to an h-index of 28. Using Web of Science my articles received more than 3,900 citations corresponding to h-index of 26.
I am member of the International Society of Computational Biology (ISCB). I served as co-chair in the organization of the Personal Genomics session at the Pacific Symposium of Biocomputing (PSB) 2011. Since 2011, in collaboration with Yana Bromberg, Hannah Carter and Antonio Rausell, I organized 10 editions of the VarI-SIG meeting (formerly SNP-SIG) in Vienna (Austria), Long Beach, (California), Berlin (Germany), Boston (Massachusetts), Dublin (Ireland), Orlando (USA), Prague (Czech Republic), Chicago (USA), Basel (Switzerland) and on online conference platform in 2020 and 2021. With Yana Bromberg and Hannah Carter, I was co-editor of 6 special issues on BMC Genomics which published the selected works presented at the VarI-SIG meetings from 2011 to 2018. More information about the VarI-SIG meeting is available at http://varisig.biofold.org. In 2013, I was member of the Proceedings Papers Committee for the ISMB/ECCB Conference. In 2015 I was member of the Late Breaking Research Committee for the ISMB/ECCB Conference. In 2016 I was co-chair of the Disease track for the ISCB Latin American Conference in Buenos Aires (Argentina). In 2020 I was also member of the proceeding committee of the ISMB Conference for the “Genomic Variation Analysis” track.
In 2010, I was member of the Data Committee in the first edition of the Critical Assessment of Genome Interpretation (CAGI), an international community effort for the assessment of computational methods for genome interpretation (https://genomeinterpretation.org/). Later in the 2018 and 2021 edition of CAGI, I was organizer of the Frataxin, Calmodulin and MAPKs challenges.
Since 2020 I am co-coordinator of the Service Bundle 1 (https://amp4rd.github.io) of the Rare Disease Community of the ELIXIR leading European infrastructure for life science organizations (https://elixir-europe.org/).
