|
Lecturer(s)
|
-
Kuchařová Anna, Mgr. Ph.D.
-
Plíhal Ondřej, RNDr. Ph.D.
-
Slavkovský Rastislav, Ing. Ph.D.
|
|
Course content
|
The lectures cover the following topics: Genomics and its embedding in medicine. Genome projects. Structure of DNA and RNA, genetic information, size of genomes, basic structural regions in human DNA. Transcriptome and Gene Expression Study Methods. Structure and classification of RNA and its modification. Control of gene expression in prokaryotes and eukaryotes. Transcription factors and regulators. DNA microarrays. Functional genomics - methods of direct and reverse genetics, methods based on gene knockout and methods based on overproduction, cloning and GFP technology. Physical mapping of genomes, cytogenetic, optical methods, mapping using radiation hybrids, physical contig maps. Use of STS markers. Genome mapping based on sequencing techniques, 2nd and 3rd generation sequencing techniques. Methods of studying the human genome and transcriptome, methods based on targeted panels, labeling and enrichment. Analysis of whole genome sequencing data. De novo sequencing, Whole Genome Shotgun (WGS) sequencing, assembly and alignment of sequence data, variant calling. Sequencing of short and long fragments. File types and basic steps in data processing. Genetic markers and molecular changes in tumor cells. Oncogenes, tumor suppressors, molecular and informative genomic methods of studying tumors. Tumor formation and progression vs genomic instability and epigenetics, DNA repair defects. Genomics and translational medicine, omic approaches. Variants in genetic information and their classification by region in the genome. Point mutations, silent, large-scale rearrangements in the genome. Genetic diseases and their inheritance, examples of diseases, structural chromosome aberrations. Record of genetic variants.
|
|
Learning activities and teaching methods
|
|
Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming)
|
|
Learning outcomes
|
Study of genome organization and gene functions, and the modern methods and aproaches used for.
|
|
Prerequisites
|
unspecified
|
|
Assessment methods and criteria
|
Oral exam
oral exam, in extent of the lectures
|
|
Recommended literature
|
-
Birren a kol. (1997). Genome analysis - Mapping Genomes. Cold Spring Harbor Laboratory Press, New York.
-
Brdička, R. Lidský genom na rozhraní tisíciletí. Grada Publishing, Praha, 2001.
-
Cantor, C.R., Smith, C.L. Genomics: The Science and Technology Behind the Human Genome Project, John Wiley and Sons, New York, 1999..
-
Cullis, C.A. Plant Genomics and Proteomics. John Wiley and Sons, Inc., New York, 2004.
-
Gibson, G., Muse, V.S. (2004). A Primer of Genome Science. Sinauer Associates, Inc., Sunderland.
-
Hunt, S. P., Livesey, F. Functional Genomics: A Practical Approach. Oxford University Press, Oxford, 2000..
-
Meksem, K., Kahl, G. (2005). The Handbook of Plant Genome Mapping. Wiley-VCH Verlag, Weinheim.
-
Primrose, S.B. Principles of Genome Analysis: A guide to mapping and sequencing DNA from different organisms. Blackwell Science Inc., 1998..
-
Rashidi, H.H., Buehler, L.K. Bioinformatics Basics. CRC Press, Boca Raton, 2000..
|