Human and Medical Genetics. Elena Maestrini

Course aims: Introduction to the strategies for the analysis of the human genome, identification and characterization of disease genes. Specifically, at the end of the course students are familiar with: - the structure of DNA variation in the human genome, genetic markers, genotyping technologies, sequencing technologies - browsing human genome information - Linkage analysis in Mendelian and complex disorders - Association studies - the HapMap project and tagSNPs selection - Using some common software for genetic linkage and association analysis "
Course contents: Structure of DNA variation in the human genome, mutation and polymorphism, genetic markers, genotyping technologies. Structural genomic variation and copy number variants. Browsing the human genome: introduction to the UCSC Human Genome Browser. Linkage analysis: strategies for mapping genes involved in mendelian disorders. The LOD score method. Genetic heterogeneity. Linkage analysis of complex disorders: non-parametric methods, sib-pair analysis. Association analysis: Linkage disequilibrium mapping, case-control studies, Transmission Disequilibrium Test. Whole genome association studies. The HapMap project. SNP selection and tag SNPs. Introduction to next generation sequencing technologies. Computer practical exercises: some commonly used software for genetic linkage and association analysis will be presented
Readings/Bibliography: Selected reviews and papers.
Teaching methods: Lectures
Assessment methods: Written and/or oral exam
Teaching tools: Slide presentations, Exercises, Scientific papers