The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are...

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Published in:Frontiers in genetics Vol. 4; p. 92
Main Authors: Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Format: Journal Article
Language:English
Published: Switzerland Frontiers Media S.A 2013
Subjects:
bioinformatics
copy number variation
Genetics
genome-wide association studies
Genomics
personalized medicine
Sequencing
copy number variation
bioinformatics
complex disease
genomics
genome-wide association studies
personalized medicine
sequencing
ISSN:1664-8021, 1664-8021
Online Access:Get full text
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Summary:Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are strongly associated with morbid consequences such as developmental disorders and cancer. Detecting CNVs within and between populations is essential to better understand the plasticity of our genome and to elucidate its possible contribution to disease. Hence there is a need for better-tailored and more robust tools for the detection and genome-wide analyses of CNVs. While a link between a given CNV and a disease may have often been established, the relative CNV contribution to disease progression and impact on drug response is not necessarily understood. In this review we discuss the progress, challenges, and limitations that occur at different stages of CNV analysis from the detection (using DNA microarrays and next-generation sequencing) and identification of recurrent CNVs to the association with phenotypes. We emphasize the importance of germline CNVs and propose strategies to aid clinicians to better interpret structural variations and assess their clinical implications.
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Reviewed by: Weihua Guan, University of Minnesota, USA; Degui Zhi, University of Alabama at Birmingham, USA; Yinglei Lai, The George Washington University, USA; Stephen W. Erickson, University of Arkansas for Medical Sciences, USA
This article was submitted to Frontiers in Statistical Genetics and Methodology, a specialty of Frontiers in Genetics.
Edited by: Rui Feng, University of Pennsylvania, USA
Armand Valsesia and Aurélien Macé have contributed equally to this work.
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2013.00092