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Lecturer(s)
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Course content
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Genetic mapping: principles, genetic maps, genetic markers, linkage and association mapping, mapping populations. Genetic mapping in humans. Whole-genome sequencing: first-, second-, and third-generation sequencing technologies. Approaches to sequence assembling, use of 3C-based techniques and optical mapping for sequence scaffolding. Sequence annotation. Analysis of genome diversity: methods for identifying and genotyping SNPs and other DNA polymorphisms. Genotyping by sequencing. High-throughput genotyping platforms and examples of their use. Pangenome projects. Transcriptome analysis: experimental design, use of microarrays. Analysis of transcriptomes by sequencing, single-cell RNA-seq, CAGE. Fundamentals of transcriptomic data analysis. Functional genomics: forward genetics approach random mutagenesis and techniques for detecting mutations. Reverse genetics approach genetic knock-in and knock-out, synthetic nucleases, methods of transgenesis. Identification of regulatory regions and functional chromatin interactions.
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Learning activities and teaching methods
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Monologic Lecture(Interpretation, Training)
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Learning outcomes
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An introduction to current methods for - genome assembly and analyses - analysis of gene expression - determination of gene function and regulation
Upon completion of the course, students will be able to: - explain the scope of genomic projects - explain current approaches to whole-genome sequencing, including the technologies used - describe methods for detecting and analyzing diversity and explain the principle of pangenome projects - explain procedures for linkage and association mapping - describe methods for high-throughput analysis of gene expression - explain basic procedures for identifying gene function - propose suitable procedures for specific genomic projects
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Prerequisites
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Intermediate knowledge of molecular biology and genetics
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Assessment methods and criteria
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Oral exam
Oral exam within the scope of the material covered
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Recommended literature
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Gibson, G., Muse, V.S. (2004). A Primer of Genome Science. Sinauer Associates, Inc., Sunderland.
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Pevsner, Jonathan. (2015). Bioinformatics and Functional Genomics. Singapur.
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