Medical Applications of Genomics (BUMK_071)
About Study Course
Objective
Learn the molecular pathomechanisms of diseases, learn next-generation sequencing technologies, identify the most widely used databases for functional and clinical interpretation of genetic variation, using specific case studies, to perform practical work with databases, for the interpretation of genetic variation, using knowledge of gene, transcript and protein structure and functional association with clinical symptoms. At the successful finishing the course, one will be able to independently prepare a clinical interpretation for genetic variations.
Prerequisites
Basic knowledge in molecular biology is required, with a focus on the human genome, transcriptome and proteome: a basic understanding of gene structure and expression, its regulation, splicing and alternative splicing, genetic variations, their types and possible effects on gene expression. Prior knowledge in biostatistics and bioinformatics and prior knowledge in clinical medicine is optional but highly desirable.
Learning outcomes
1.Learners will gain knowledge about genomics, the most important databases in genetics used for the clinical interpretation of genetic variants, the main principles of data acquisition and processing methods.
1.To search, select, classify and analyze big data from next generation sequencing using different digital tools and technologies in order to classify and perform clinical interpretation for genetic variants.
1.1. Creates solutions to complex problems by independently classifying genetic variants and interpreting them clinically using next-generation sequencing data (big data), browses, searches and selects data, information and digital content using various digital tools and technologies such as software tools (e.g. These tools and digital tools, such as software tools (e.g. FASTQC, VcfTools, VariantInterpreter, SEQR) and different databases (e.g. Ensembl/GENCODE, UniProt, gnomAD) to find solutions to ill-defined complex problems such as genetic variant classification and clinical interpretation for molecular diagnosis.
2. Understands the process of acquisition and interpretation of next generation sequencing data (laboratory and bioinformatics processing steps) and is able to identify potential sources of error and propose ways to overcome them, thus making creative use of digital technologies.
3. Able to educate and guide other medical colleagues (geneticists and laboratory physicians) in the creative use of digital technologies for the analysis and interpretation of genetic variants.
