SubjectsSubjects(version: 945)
Course, academic year 2023/2024
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Genomic Analysis in Clinical Practice - MC230P73
Title: Genomická analýza v klinické praxi
Czech title: Genomická analýza v klinické praxi
Guaranteed by: Department of Analytical Chemistry (31-230)
Faculty: Faculty of Science
Actual: from 2014
Semester: winter
E-Credits: 3
Examination process: winter s.:
Hours per week, examination: winter s.:2/0, Ex [HT]
Capacity: unlimited
Min. number of students: unlimited
4EU+: no
Virtual mobility / capacity: no
State of the course: taught
Language: Czech
Note: enabled for web enrollment
Guarantor: doc. RNDr. Marek Minárik, Ph.D.
Teacher(s): doc. RNDr. Marek Minárik, Ph.D.
Incompatibility : MC230P66
Annotation -
Last update: doc. RNDr. Karel Nesměrák, Ph.D. (28.10.2019)
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.
Literature -
Last update: doc. RNDr. Karel Nesměrák, Ph.D. (28.10.2019)

1. National Human Genome Institute http://www.genome.gov/Education/
2. W.G. Feero, A.E. Guttmacher, F.S. Collins: Genomic Medicine - An Updated Primer. The New England Journal of Medicine 362:21 (2010), 2001-2011. (DOI: 10.1056/NEJMra0907175)

Requirements to the exam -
Last update: doc. RNDr. Karel Nesměrák, Ph.D. (28.10.2019)

The exam from Genomic analysis in clinical practice is written. The requirements for the exam are given by the extent of the lecture. At least 68% success rate is required to pass the exam.

Syllabus -
Last update: doc. RNDr. Marek Minárik, Ph.D. (09.09.2021)
1. Physico-chemical properties of DNA / RNA: extraction, denaturation, absorbance
2. 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 PCR
6. Mutation and mutation analysis: point, chromosomal, mutation vs. mutation. polymorphisms, sensitivity, specificity, scanning vs genotyping, haplotypes, GWAS, applications
7. Sequencing I. and fragmentation analysis: history, Sanger, pyrosequencing, STR markers (genetic identity and paternity determination), prenatal diagnostics, MSI, LOH
8. Sequencing II .: NGS / MPS, libraries, instrumentation, targeted / deep sequences, coverage, applications
9. Molecular oncology: origin and course of cancer, epidemiology, diagnostics, staging, treatment modalities, prediction, prognosis
10. Genomic analysis in oncology: cell signaling, oncogenes, tumor suppressors, epigenomics (DNA methylation, miRNA), molecular markers
11. New trends
 
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