Syllabus
1. Physico-chemical properties of DNA / RNA: extraction, denaturation, absorbance2. Fluorescence in genomic analysis: intercalation, FRET, quenching, quantum dots (theory, applications)3. Separation of DNA/RNA: Electromigration methods (theory, gel, capillary and microchip electrophoresis), Chromatographic methods (ion, reversed phase and ion-pair HPLC)4. Enzymatic methods in DNA/RNA analysis: polymerases, restrictases, ligases (properties, usage)5. PCR methods: general principles, optimization, modification, real-time PCR (Ct, quantification, calibration), digital PCR, emulsion and bridge PCR6. Mutation and mutation analysis: point, chromosomal, mutation vs. mutation. polymorphisms, sensitivity, specificity, scanning vs genotyping, haplotypes, GWAS, applications7. Sequencing I. and fragmentation analysis: history, Sanger, pyrosequencing, STR markers (genetic identity and paternity determination), prenatal diagnostics, MSI, LOH8. Sequencing II .: NGS / MPS, libraries, instrumentation, targeted / deep sequences, coverage, applications9. Molecular oncology: origin and course of cancer, epidemiology, diagnostics, staging, treatment modalities, prediction, prognosis10. Genomic analysis in oncology: cell signaling, oncogenes, tumor suppressors, epigenomics (DNA methylation, miRNA), molecular markers11. New trends
Annotation
Genomic analysis in clinical practice gives a comprehensive overview of the principles of methodology and instrumentation used for the analysis of the human genome in medicine. The main emphasis is put on understanding the theoretical foundations and practical use of methods in routine practice.