Genome re-Sequencing for the Detection of Genomic Variations in Human Diseases
Monday October 12, 2015, full day (10:00 – 13:00 and 14:30 – 17:30)
This tutorial will focus on the analysis of genome re-sequencing data in order to detect genomic variations.
Particular emphasis will be given to single nucleotide variant (SNV) calling methods used to identify candidate variants involved in human diseases.
Fabio Iannelli will hold the major part of the tutorial and he will also focus on somatic SNVs in cancer, while Anna De Grassi will focus on germline SNVs in rare mendelian disorders.
Other key points like the rationale behind the methods for the detection of genomic alterations (SNV, Copy Number Variants and Structural Variations), and the relative experimental design (target enrichment vs whole genome sequencing) will be discussed.
IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy
Fabio Iannelli is currently studying the impact of DNA damage on genome and transcriptome as a mechanism responsible for genome instability in cancer. He has a broader interest in genetics of cancer and in particular in the mechanisms linking genome instability to cancer, and in the dynamics of clonal evolution in cancer.
Fabio Iannelli obtained his PhD at the University of Milan, Italy, where he studied the molecular evolution of mitochondrial genome in the group of Graziano Pesole. He then joined as a Postdoc the group of Francesca Ciccarelli at the European Institute of Oncology (IEO) in Milan, where he guided a project showing that inflammation promotes liver cancer in human and mouse through genomic modifications distinguished from those determined by other etiological factors. During his Postdoc at IEO, Dr. Iannelli also co-authored a study rebuilding the proliferation history of colorectal cancers by deep sequencing of their genome, and contributed to a study demonstrating the presence of genomic instability in non-neoplastic tissues of hereditary nonpolyposis colorectal cancer patients.
In January 2014 he moved as a senior Postdoc in the group of Fabrizio d’Adda di Fagagna at the FIRC Institute of Molecular Oncology (IFOM) in Milan, where he is currently involved in several projects related to DNA damage response and genome instability.
Anna De Grassi,
University of Bari, Bari, Italy
Anna De Grassi is Assistant Professor of Biology at the University of Bari.
Her research fields of interest focus on the computational analysis of genomes applied to unravel the rules that govern the association between genotype and phenotype. She worked on vertebrate genomics during her PhD at the University of Bari, she then moved to cancer genomics, as Post-doc and Staff Scientist at the European Institute of Oncology (Milan), and to bacterial genomics, as Maître de Conférences at the EPHE (Paris).
Her present projects mainly regard novel methods to identify and analyze genomic variations in human inherited and sporadic disorders.