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Docente
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TROMBETTA BENIAMINO
(programma)
Human population genetics
• Hardy-Weinberg equilibrium.
• Genetic effects of inbreeding, calculation of the inbreeding coefficient from pedigrees.
• Genetic drift and natural selection.
Human genetic diversity in health and disease:
• Classes of genetic variants/ polymorphisms. De novo mutation rates.
• International projects on the human genetic diversity: "1,000 genomes" and "UK10K" projects.
Genetics of multifactorial characters and complex pathologies:
• Decomposition of phenotypic variance: environmental and genetic variance; heritability.
• Polygenic theory of quantitative and discontinuous characters.
• The polygenic threshold model. The "infinitesimal" and the "rare allele" models.
Human gene mapping
• Linkage analysis, lod score calculation.
• Haplotypes and linkage disequilibrium, linkage disequilibrium-based mapping methods.
Storage, management, analysis, and visualization of data
• Use of genome browsers: theoretical aspects and practical exercises.
• Use of genome viewer programs: theoretical aspects and practical exercises on NGS data.
• Structure, feature and handling of the main files used in NGS analysis.
• Storage and analysis of genetic raw data.
• Mining information from databases
acquired knowledge:
Students will acquire a deep understanding of the theoretical and practical tools to solve genetic problems. Fundamentals concepts in genetics, functioning and evolution will be reconsidered in light of the sequencing and re-sequencing projects.
Acquired skills:
During the course, students will learn to rely on computational and data science tools for the storage, management, analysis, and visualization of genetic data.
 “Human Molecular Genetics” 4th Edition, Strachan & Read
"Genetics of population" Hedrick 3th edition Jones and Bartlett
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