Role of common and rare genetic variants in COVID-19 severity

Prof. Simone Furini

  • 27.5.2022, 11:00 - 12:00

The Institute of Biomedical Engineering is hosting a lecture by Professor Simone Furini Friday May 27th at 11:00 in room M103 titled "Role of common and rare genetic variants in COVID-19 severity".


COVID-19 has a broad spectrum of clinical presentations: from asymptomatic patients to those with severe symptoms leading to death. While age and sex are major determinants for the outcomes of the infection, host genetic is also expected to have an important impact on the clinical manifestations. Identifying which genetic factors contribute to severity might reveal the biological mechanisms underlying the severe phenotype and suggest relevant information for prompt clinical interventions. In this seminar I will first present the results of Genome Wide Association Studies (GWAS), and burden-tests based on Whole Exome Sequencing data. GWAS and burden-tests focus respectively on the contribution of common and rare genetic variants. In an attempt to combine the role of common and rare variants for severity prediction, we developed a novel score bases on the weighted contribution of variants in different frequency ranges. This integrated score was tested in independent cohorts and proved to improve severity predictions compared to models based on age and sex alone.


Simone Furini is a Biomedical Engineer affiliated as a lecturer at the Department of Medical Biotechnologies of the University of Siena, Italy. He received his PhD in Bioengineering from the University of Bologna in 2008, discussing a thesis about computational analyses of ion channels by atomistics simulations and continuum models. His main area of expertise is the simulation of biological systems at the atomic and molecular level, with contributions in the fields of conduction and selectivity mechanisms in membrane proteins, and to the analysis of protein-DNA interactions. More recently, he is applying Machine Learning methods to the analysis of sequencing experiments, with applications to vaccine development, and to the identification of the genetic bases of COVID-19 severity.

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