At the end of course, students should be able to:
Describe the types of genetic variation seen in the human genome and explain how these variations affect disease states and diversity of normal variation. Perform pedigree analysis and apply principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance; and incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population. Explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, mosaicism, genomic imprinting and unstable repeat expansion. Understand the basic principles of Genetic counselling. The student should also be able to understand the technical basis of the principal genomic tests such as array-CGH/SNP and NGS, to evaluate their clinical and analytical sensitivity and specificity, and their predictive values.
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Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier
Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier