Copy Number Variation.

Details

Serval ID
serval:BIB_B59860FB497A
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Copy Number Variation.
Journal
Methods in molecular biology
Author(s)
Macé A., Kutalik Z., Valsesia A.
ISBN
978-1-4939-7867-0
ISSN
1940-6029 (Electronic)
ISSN-L
1064-3745
Publication state
Published
Issued date
2018
Peer-reviewed
Oui
Volume
1793
Pages
231-258
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Differences between genomes can be due to single nucleotide variants (SNPs), 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 250 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 or phenotypic traits.While the link between SNPs and disease susceptibility has been well studied, to date there are still very few published CNV genome-wide association studies; probably owing to the fact that CNV analysis remains a slightly more complex task than SNP analysis (both in term of bioinformatics workflow and uncertainty in the CNV calling leading to high false positive rates and unknown false negative rates). This chapter aims at explaining computational methods for the analysis of CNVs, ranging from study design, data processing and quality control, up to genome-wide association study with clinical traits.
Keywords
Computational Biology/methods, DNA Copy Number Variations, Genetic Predisposition to Disease, Genome-Wide Association Study/methods, Genomics/methods, Humans, Workflow, Copy number variation, DNA, Deletion, Duplication, Genome-wide association studies, Human disease, Human genetics, Structural variation
Pubmed
Web of science
Create date
25/06/2018 16:11
Last modification date
20/08/2019 15:24
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