- Docente: Tommaso Pippucci
- Credits: 6
- SSD: MED/03
- Language: English
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Genomics (cod. 9211)
Learning outcomes
The successful student is familiar with the mechanisms behind genetic disorders and the use of -omic approaches to improve diagnostic and therapeutic applications. The student is able to keep track of the scientific literature and the technological breakthroughs in medical genomics.
Course contents
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Basics of Medical Genetics and Genomics
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Human Genomic Variation
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types, reference databases and relevance for health
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Clinical Classification of Genomic Variants
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principles, recommendations and reference databases
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Mechanics of Genetic Disease
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Study Design in Gene Identification for Rare and Common Diseases
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aCGH/aSNP, Whole Exome Sequencing, Whole Genome Sequencing
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computational approaches for variant identification, clinical analysis and interpretation of data
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Application of other "omics" in the diagnosis of genetic diseases
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Genomic Data in Precision Medicine
Readings/Bibliography
PDF documents and/or PPT presentations used during the course and selected articles from scientific literature
Teaching methods
Lectures with ppt presentation. Class discussion on studies from the scientific literature and and practical assignments
Assessment methods
Oral exam
Office hours
See the website of Tommaso Pippucci