BIOINFORMATICS
❖ Prof. Gianfranco Politano
❖ DAUIN, Politecnico di Torino
mail: <name>dot<surname>@[Link]
Material
❖ Course slides
❖ Scienti c research papers
❖ Web documents
❖ Short educational movies
❖ Optionally, ML and deep learning books:
❖ "Deep Learning" by Ian Goodfellow, Yoshua Bengio and Aaron Courvill, MIT Press;
❖ "Deep Learning Illustrated: A Visual, Interactive Guide to Arti cial Intelligence" (Addison-Wesley
Data & Analytics Series) by Jon Krohn, Grant Beyleveld, Aglaé Bassens. Addison-Wesley
Professional; 1 edition (August 5, 2019);
❖ others suggested during the course.
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Exam
○ Exam
❖ Computer test on Exams platform - open/close questions about the entire course
○ When?
❖ Written test -> according to Polito exam sections’ scheduling
Course Content Overview (1)
❖ Introduction to biology and bioinformatics
❖ DNA and RNA Sequencing:
❖ Description of Next Generation Sequencing (NGS) and Third Generation Sequencing
technologies,
❖ Algorithms and tools for Sequence alignment: global and local alignment
Course Content Overview (2)
❖ Pattern Recognition and Learning algorithms:
❖ Machine Learning:
❖ Evaluating classi cation and prediction performance
❖ The classi cation paradigm: methods for feature extraction - feature selection – categorization – class balancing
❖ Supervised learning vs unsupervised learning (brief recap)
❖ Applications in bioinformatics
❖ Neural Networks (recap)
❖ Deep Learning: i.e., CNNs, BCNNs, Autoencoders, GANs
❖ Applications in bioinformatics (i.e., see below)
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Course Content Overview (3)
❖ Networks
❖ History
❖ Theoretical Application
❖ Real examples in Bioinformatics
❖ Biostatistics:
❖ Basics of biostatistics
❖ Main problems
Course Content Overview (4)
❖ Lecture by Ferdinando Di Cunto - Molecular Biologist (Neuroscience Dept. "Rita
Levi Montalcini”) on: "Biological meaning of Sequencing data”
Course Content Overview (4)
❖ Research applications of bioinformatics
❖ Discussion about challenging real case studies derived from the clinical
practice. The case studies will concern the following fields:
❖ Oncology (markers of breast/gastric/lung cancer; precision oncology).
❖ Cardiology (e.g., diagnostic and prognostic biomarkers in ischemic stroke).
❖ Psychiatric diseases (depression, schizophrenia, autism spectrum disorders).
❖ Neurodegenerative diseases (Dementias, Parkinson’s).
❖ Expert clinicians seminars to discuss bioinformatics advantages and drawbacks
from a clinical perspective.
Let’s start with…
❖ Introduction to Biology
❖ DNA, RNA, central theorem of biology, genetic code, gene expression
❖ Gene regulatory networks, transcription factors, non coding RNAs, epigenetics
❖ CNV, ampli cation, mutations, gene fusions
❖ Introduction to Bioinformatics
❖ Sequencing data processing tools
❖ Gene regulation analysis tools
❖ Applications: personalized and precision medicine, drug design
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