Article (Scientific journals)
A decade of structural variants: description, history and methods to detect structural variation.
Escaramis, Georgia; Docampo Martinez, Elisa; Rabionet, Raquel
2015In Briefings in Functional Genomics, 14 (5), p. 305-14
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Keywords :
copy number variants; structural variation
Abstract :
[en] In the past decade, the view on genomic structural variation (SV) has been changed completely. SVs, previously considered rare events, are now recognized as the largest source of interindividual genetic variation affecting more bases than single nucleotide polymorphisms, variable number of tandem repeats and other small genetic variants. They have also been shown to play a role in phenotypic variation and in disease. In this review, the authors will provide an introduction to SV; a short historical perspective on the research of this source of genomic variation; a description of the types of structural variants, and on how they may have arisen; and an overview on methods of detecting structural variants, focusing on the analysis of high-throughput sequencing data.
Disciplines :
Genetics & genetic processes
Author, co-author :
Escaramis, Georgia
Docampo Martinez, Elisa ;  Université de Liège - ULiège > Cert.IU.gén.hum.
Rabionet, Raquel
Language :
English
Title :
A decade of structural variants: description, history and methods to detect structural variation.
Publication date :
2015
Journal title :
Briefings in Functional Genomics
ISSN :
2041-2649
eISSN :
2041-2657
Publisher :
Oxford University Press, United Kingdom
Volume :
14
Issue :
5
Pages :
305-14
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
(c) The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.
Available on ORBi :
since 01 February 2016

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