The growing importance of CNVs: new insights for detection and clinical interpretation

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 500kb are st...

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Bibliographic Details
Main Authors: Armand eValsesia, Aurélien eMace, Sébastien eJacquemont, Jacques S Beckmann, Zoltán eKutalik
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-05-01
Series:Frontiers in Genetics
Subjects:
Genomics
bioinformatics
Sequencing
personalized medicine
copy number variation
genome-wide association studies
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00092/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00092/full

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