Structural variant calling: the long and the short of it.

Details

Serval ID
serval:BIB_2D7AE4E0971F
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Structural variant calling: the long and the short of it.
Journal
Genome biology
Author(s)
Mahmoud M., Gobet N., Cruz-Dávalos D.I., Mounier N., Dessimoz C., Sedlazeck F.J.
ISSN
1474-760X (Electronic)
ISSN-L
1474-7596
Publication state
Published
Issued date
20/11/2019
Peer-reviewed
Oui
Volume
20
Number
1
Pages
246
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
Publication Status: epublish
Abstract
Recent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution-giving rise to the differences within populations and among species. Nevertheless, characterizing SVs and determining the optimal approach for a given experimental design remains a computational and scientific challenge. Multiple approaches have emerged to target various SV classes, zygosities, and size ranges. Here, we review these approaches with respect to their ability to infer SVs across the full spectrum of large, complex variations and present computational methods for each approach.
Keywords
Animals, Genomic Structural Variation, Genomics/methods, Genomics/trends, Humans, De novo assembly, Gene fusion, Hybrid, Long-read, Mapping, RNA-Seq, Short-read, Structural variant (SV) detection
Pubmed
Open Access
Yes
Create date
30/11/2019 12:40
Last modification date
16/04/2020 5:26
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