25th Medical Genetics: Arrays and CNVs

Author: J. Veermesch
Submitted: Friday 6th of July 2012 08:57:00 AM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, 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 genomeIn this session the general principles of genome wide CNV detection by arrays 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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Original version - English

abstract Vermeesch_Arrays_and_CNVs_5210.pdf

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Citation

J. Veermesch. 25th Medical Genetics: Arrays and CNVs. EUROGENE portal. July 2012. online: http://eurogene.open.ac.uk/content/25th-medical-genetics-arrays-and-cnvs

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