Medical Genomics - Period 5 Social Sciences & Humanities Program Spring 2022 Semester - Amsterdam

In the past decennia, large initiatives of the scientific community have culminated in an essentially complete description of all our genetic material, together called the genome. After this landmark, more and more genomes have been analyzed. These include genomes of many other species, allowing to recognize DNA sequences that are highly conserved through evolution. In addition, the genomes of many different human individuals can be compared to get an idea of the genetic variation that exists in human populations.

The term genomics refers to the discipline that studies an organism's entire genome, as opposed to studies that focus on one or few selected genes. In this course, you will learn fundamental concepts relevant for such studies and be introduced to powerful techniques that can be applied to investigate all genes simultaneously (i.e. on a genome-wide scale). The availability of such techniques is of immense value for biomedical sciences, for example in clinical genetics where these techniques can rapidly detect genetic abnormalities in patients. The steeply increasing efficiency of mutation discovery prompts a new need for bioinformatics tools to handle all the available data and to distinguish causative mutations from neutral variations. At the same time systematic approaches to restore genetic defects are also progressing. In the coming years, genome-wide approaches can be expected to yield many medical advancements, collectively referred to as medical genomics.

Contact hours listed under a course description may vary due to the combination of lecture-based and independent work required for each course therefore, CEA's recommended credits are based on the ECTS credits assigned by VU Amsterdam. 1 ECTS equals 28 contact hours assigned by VU Amsterdam.