- Docente: Rita Casadio
- Crediti formativi: 6
- SSD: BIO/18
- Lingua di insegnamento: Inglese
- Moduli: Rita Casadio (Modulo 1) Osman Ugur Sezerman (Modulo 2)
- Modalità didattica: Convenzionale - Lezioni in presenza (Modulo 1) Convenzionale - Lezioni in presenza (Modulo 2)
- Campus: Bologna
- Corso: Laurea Magistrale in Bioinformatics (cod. 8020)
Conoscenze e abilità da conseguire
At the end of the course, the student has knowledge of the main approaches for genetic data analysis, with an emphasis on the human genome, genetic mapping and disease gene identification strategies. In particular, the student is able to: understand the structure of genetic variability and its phenotypic effects, browse human genome data, apply methods to map and identify disease genes, use some current software for genetic data analysis, correctly interpret results, choose the best strategy to design a genetic study.
Contenuti
Analysis of the human genome and genetic variation, mutations and polymorphisms, genetic markers, copy number variants.
Browsing genome data: the UCSC Genome
Browser
Linkage analysis: parametric and non-parametric methods. Strategies
for mapping genes involved in mendelian and complex
disorders.
Association analysis: Linkage disequilibrium mapping, genome wide
association studies, the HapMap project, SNP selection and tag
SNPs.
Introduction to next generation sequencing
technologies.
Computer practical exercises using some freely available genetic
analysis software.
Testi/Bibliografia
Selected papers
Suggested book: Strachan T., Read A.P. Human Molecular Genetics (4th edition)
Modalità di verifica e valutazione dell'apprendimento
Written and/or oral test
Strumenti a supporto della didattica
Slide presentations
Exercises
Scientific papers
Orario di ricevimento
Consulta il sito web di Rita Casadio
Consulta il sito web di Osman Ugur Sezerman