Medizinische Universität Graz - Research portal
Selected Publication:
Rötzer, K.
Integration of Novel DNA Analysis Methods in Medical Genetics and Implications for Genetic Counseling
[ Dissertation ] Medical University of Graz; 2013. pp. 90
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- Authors Med Uni Graz:
- Rötzer Katharina Magdalena
- Advisor:
- Petek Erwin
- Speicher Michael
- Altmetrics:
- Abstract:
- In the past ten years multiple novel genome wide high resolution methods for genetic analysis have been developed and offer new opportunities for diagnosis in Medical Genetics. Some examples are the array CGH for detecting copy number variations, SNP arrays as well for copy number variations but also for homozygosity mapping mainly in homozygous families, and next generation sequencing methods which enable a relatively cost effective and time saving analysis of multiple genes (up to a whole genome) in one run. However, especially for non-Medical Geneticists this new diversity in diagnostic methods is often difficult to look through and the decision which method should be applied first becomes difficult. In this study multiple new methods will be presented by use of case reports and their primary fields of application, their advantages but also their limitations shall be discussed. Subsequently, an algorithm will be elaborated including a workflow for different clinical situations. Furthermore, the implications for genetic counseling with regard to novel high resolution genome wide methods as well as the problems in reporting of results will be discussed.