Arrays and CNVs 2011

Author: J. Vermeesch
Submitted: Monday 5th of September 2011 01:23:56 PM
Submitted by: egf
Educational levels: qc2, qc3

Abstract

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 explained. A series of different detection platforms will be compared and the main technical parameters will be discussed. CNVs can be benign or can be the cause of genetic diseases or predispositions. I will discuss the clinical consequences of CNVs, the clinical interpretation pipeline and the mechanisms by which CNVs can exert a phenotypic effect.

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J. Vermeesch. Arrays and CNVs 2011. EUROGENE portal. September 2011. online: http://eurogene.open.ac.uk/content/arrays-and-cnvs-2011

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