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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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Autores principales: Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667386/
https://www.ncbi.nlm.nih.gov/pubmed/23750167
http://dx.doi.org/10.3389/fgene.2013.00092
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author Valsesia, Armand
Macé, Aurélien
Jacquemont, Sébastien
Beckmann, Jacques S.
Kutalik, Zoltán
author_facet Valsesia, Armand
Macé, Aurélien
Jacquemont, Sébastien
Beckmann, Jacques S.
Kutalik, Zoltán
author_sort Valsesia, Armand
collection PubMed
description 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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spelling pubmed-36673862013-06-07 The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation Valsesia, Armand Macé, Aurélien Jacquemont, Sébastien Beckmann, Jacques S. Kutalik, Zoltán Front Genet Genetics 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. Frontiers Media S.A. 2013-05-30 /pmc/articles/PMC3667386/ /pubmed/23750167 http://dx.doi.org/10.3389/fgene.2013.00092 Text en Copyright © 2013 Valsesia, Macé, Jacquemont, Beckmann and Kutalik. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc.
spellingShingle Genetics
Valsesia, Armand
Macé, Aurélien
Jacquemont, Sébastien
Beckmann, Jacques S.
Kutalik, Zoltán
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
title The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
title_full The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
title_fullStr The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
title_full_unstemmed The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
title_short The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
title_sort growing importance of cnvs: new insights for detection and clinical interpretation
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667386/
https://www.ncbi.nlm.nih.gov/pubmed/23750167
http://dx.doi.org/10.3389/fgene.2013.00092
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