Regulation of gene expression / epigenetics
The genetic code and mutations.
Organization of the human genome.
Organization and results of the genome project.
Inheritance and pedigree analysis.
Genetic and clinical features of some Mendelian pathologies with autosomal dominant, autosomal recessive and X-linked inheritance.
Methods of investigation in medical genetics: PCR and DNA sequencing, new generation massive sequencing methods, microarrays technique.
Genetic mapping of Mendelian and complex characters.
Approaches and examples of gene identification in human pathologies. Exome sequencing: case studies.
Genetic counselling and prenatal diagnosis
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