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

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Ressource 1Télécharger: BIB_3366F05BAD80.P001.pdf (3039.86 [Ko])
Etat: Serval
Version: de l'auteur
ID Serval
serval:BIB_3366F05BAD80
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.
Périodique
Frontiers in Genetics
Auteur(s)
Valsesia A., Macé A., Jacquemont S., Beckmann J.S., Kutalik Z.
ISSN
1664-8021 (Electronic)
ISSN-L
1664-8021
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
4
Pages
92
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: epublish
Résumé
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.
Pubmed
Création de la notice
08/11/2013 12:37
Dernière modification de la notice
03/03/2018 15:47
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