The mitochondrial genome: assessing the functional impact of variants through computational methods”

External Seminars

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06 Mar 11:00

Until 13:00 2h

The mitochondrial genome: assessing the functional impact of variants through computational methods"

place Monterotondo Campus “A. Buzzati Traverso” – Via E. Ramarini, 32 Monterotondo Scalo expand_more

Speaker: Tommaso Mazza, Eng. Ph.D. IRCCS Ospedale Casa Sollievo della Sofferenza
Role: Head of Bioinformatics
Title: The mitochondrial genome: assessing the functional impact of variants through computational methods
Main field of investigation : Bioinformatics
Researcher Host: Chiara Parisi

Abstract: "In multicellular organisms, mitochondria are essential for producing energy metabolism; their dysfunction has pleiotropic effects and is a common cause of genetic diseases. The failure of the oxidative phosphorylation system is frequently caused by mitochondrial DNA mutations. However, the significant variability of clinical manifestations, the onset of symptoms that can occur at any stage of life and involve multiple tissues, their heteroplasmic levels, and mutational load in tissues, all contribute to the observed clinical heterogeneity, making the interpretation of the pathogenicity of variants difficult. The computational methods were acknowledged by the American College of Medical Genetics and Genomics as having a part in the overall pathogenicity evaluation process. I will showcase those created in my lab in this talk and emphasize the role artificial intelligence has played in this area."