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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 are ...
Genetic counselling is defined as the process that provides patients and family members with information about the natural history, cause, and inheritance of genetic diseases. Individuals or families may consult medical geneticists because they suffer from or are at risk for a genetic disease. The g ...
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 genome. In this session the general principles of genome wide CNV detection by will be explai ...
This is the introductory lecture of the 2011 edition of the ESGM annual Medical Genetics Course
"Genes, desarrollo y evolución" a cargo del Dr. D. Ginés Morata, Premio Príncipe de Asturias, Profesor de investigación del Centro de Biología Molecular del CSIC-UAM. Esta conferencia se enmarca en el programa del Seminario "Darwin en nuestros días: Notas para la cultura científica". (10 de m ...
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