Copy Number Variation.

Détails

ID Serval
serval:BIB_B59860FB497A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Copy Number Variation.
Périodique
Methods in molecular biology
Auteur(s)
Macé A., Kutalik Z., Valsesia A.
ISBN
978-1-4939-7867-0
ISSN
1940-6029 (Electronic)
ISSN-L
1064-3745
Statut éditorial
Publié
Date de publication
2018
Peer-reviewed
Oui
Volume
1793
Pages
231-258
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
25/06/2018 17:11
Dernière modification de la notice
20/08/2019 16:24
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