A decade of structural variants: description, history and methods to detect structural variation.

[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 :

Issue :

Pages :

305-14

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 01 February 2016

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