Seminar Dr Mario Guarracino “Unveiling the challenges of a happy marriage between Biology and Informatics”

Biomedical Science Seminar Series – Monday 28th November 2016, 12 noon

Conference Room, A Floor, Alfred Denny Building

Dr Mario Guarracino
Laboratory for Genomics, Transcriptomics and Proteomics
National Research Council of Italy
Unveiling the challenges of a happy marriage between Biology and Informatics
Next generation sequencing (NGS) technologies are widely used to characterize the genomic map of organisms. Since their advent, high-throughput experiments have produced a burst in knowledge and understanding of genomic, transcriptomic and epigenomic mechanisms and their altered states.
NGS workflows might be divided into three main phases: the first produces raw data through base calling and quality assessment; the second, which is application specific, aims at converting the sequence data into biological information (e.g. gene list, variant list), primarily through the alignment to the reference genome or de novo assembly; finally, the so called tertiary analysis concerns with the extrapolation of the biological meaning and the integration of different approaches to exhaustively investigate the data.
Although standard procedures have not yet been defined so far, many tools and pipelines have already been developed to perform the primary and secondary NGS analyses.
The third phase is particularly sensitive to interdisciplinarity. The exchange of knowledge between computational researcher and experimental researcher plays a pivotal role to interpret and gain new biological knowledge from data analysis. Furthermore, the fast evolution of technologies for quantitative biology requires the design of new data analysis methods that are able to keep up with such fast changes.
In this talk I will give a brief introduction of NGS technologies and describe some of the methods and tools used for analysis. I will be focusing on methods for DNA variants annotation and filtering, the detection of contaminating sequences in NGS data. I will also describes approaches for data integration.
I will also describe applications we have been developed and optimised on the identification of miRNA-target interactions through the data integration of miRNA, mRNA and protein expression profiles, tools for annotation and enrichment of novel transcripts and methods for reconstruction of genetic regulatory networks.

Host: Dr Marta Milo

All Welcome

For a full list of forthcoming speakers – please see the Departmental
web site:

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