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People tend to see genetics as raising uniquely sensitive ethical issues. Whether that view is right or wrong, it does mean that as working geneticists we have to be specially sensitive to the ethical implications of our work. Although we all subscribe to general principles of ethical conduct, somet ...
Recent studies have indicated that humans have an exceptionally high per-generation mutation rate of 7.6 x 10-9 to 2.2 x 10-8. These spontaneous germline mutations can have serious phenotypic consequences when affecting functionally relevant bases in the genome. In fact, their occurrence may explain ...
What is dysmorphology? David Smith from the USA first used the term “dysmorphology” in the 1960’s to describe the study of human congenital malformations and patterns of birth defects. The subject is broad, and to be a dysmorphologist one needs to be knowledgeable in many areas, from embryolo ...
During the last years, it has become clear that copy number variations (CNVs) are much more prevalent than previously thought. This insight was made possible by the development of arrays to scan the human genomeIn this session the general principles of genome wide CNV detection by arrays will be ...
There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we ar ...
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