Introduction to Contemporary Genetic Analysis 2008

Submitted: Friday 11th of September 2009 02:11:36 PM
Submitted by: egf
Language: English
Educational levels: No level assigned


The Introduction to Contemporary Genetics Analysis that opened the first day of the 21st course in Medical Genetics. Contains three lectures and a video by: D. Donnai : Medical Genetics Today (Presentation and Video), E. Maestrini: Linkage Analysis, H. Brunner: Genotypes and Phenotypes


Medical Genetics today is built on a distinguished history of clinical, scientific and technological contributions. Over the 55 years since the discovery of the structure of DNA and the ~ 40 years since the introduction of chromosome analysis for diagnostic purposes an increasing range of services h ...
Linkage analysis is a powerful method for the localization and subsequent identification of disease genes. Through linkage analysis it is possible to identify a disease locus without prior knowledge about the molecular mechanisms involved in the disease process. This strategy is known as positional ...
Much of human and medical genetics concerns the relationships that exist between human genes, the variation and mutations that occur within these genes, and the phenotypes that result from these mutations. At least 5000 human phenotypes have been documented in the Online catalogue of Mendelian Inher ...

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