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个人简介
My research activity focuses on three main areas, namely genomics, transcriptomics and epigenomics, with a particular focus on the optimization of methods to exploit innovative genomic technologies for the study of these omics levels, in health and disease conditions. Since 2008, I conducted transcriptomic and epigenomic (miRNA and histone marks) studies in the human field, analysing the regulation of gene expression in the immune system of healthy individuals and patients with autoimmune diseases. More recently, I have also structurally and functionally characterized, novel long-non-coding RNAs implicated in immune regulation.
In line with the proposed project, over the last 7 years, I have potentiated my research on the identification of genetic variations (SNP, InDel, SV and CNV) exploiting Next-Generation-Sequencing and innovative genomic technologies, including second-generation sequencing (Illumina, BGI), third-generation (long-read) sequencing such as PacBio and Oxford Nanopore, sequencing using linked-reads (10x Genomics) and genome analysis using physical maps (Bionano Genomics and Nabsys). Thanks to this expertise, I’m involved in numerous collaborations with different clinical centres in Italy (see section on collaborations) in projects investigating genetic variations underlying human inherited conditions and complex diseases.
My current research is aimed at identifying solutions to combine these innovative technologies (long-read and genome mapping) with enrichment approaches of long target regions, to characterize the structure and genetic variations in portion of the genome inaccessible to traditional sequencing methods based on short-reads (structural variants, repeats, highly homologous regions) and to develop innovative diagnostic assays. In addition, within the framework of the European Project INCREASE, I’m optimizing novel cost&time-efficient genotyping approaches for the characterization of large cohorts of individuals.
I currently coordinate -next to Prof. Massimo Delledonne- a research group composed of 16 members, comprising molecular biologists and bioinformaticians, maintaining the direct supervision of 2 PhD students and 6 post-doc.
研究兴趣
论文共 144 篇作者统计合作学者相似作者
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Ana Moreno,Sabrina Canziani,Davide Lelli,Anna Castelli,Alessandro Bianchi,Irene Bertoletti, Federica Maccarinelli, Marco Carlomagno, Matteo Paini,Marzia Rossato,Massimo Delledonne,Stefano Giacomelli,
Lorenzo Rocchetti,Monica Rodriguez,Alice Pieri, Simone Papalini,Luca De Antoni, Erika Vitali, Astrid Vincze,Creola Brezeanu,Elisa Bellucci, Laura Nanni,Marzia Rossato,Massimo Delledonne,
biorxiv(2024)
Frontiers in Immunology (2024): 1227648-1227648
biorxiv(2024)
Alice Pieri, Romina Beleggia,Tania Gioia,Hao Tong, Valerio Di Vittori,Giulia Frascarelli,Elena Bitocchi, Laura Nanni,Elisa Bellucci,Fabio Fiorani, Nicola Pecchioni, Stefania Marzario,
The Plant cell (2024)
PloS oneno. 1 (2024): e0295997-e0295997
Algal Researchpp.103567, (2024)
Elif Çakan,Marie Dominique Ah Kioon,Yolanda Garcia-Carmona,Salomé Glauzy,David Oliver,Natsuko Yamakawa, Andrea Vega Loza,Yong Du,Jean-Nicolas Schickel,Joshua M Boeckers,Chao Yang, Alessia Baldo,
The Journal of experimental medicineno. 12 (2023)
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