TY  - JOUR
Y1  - 2019/12//
ID  - discovery10086581
JF  - Genome Biology volume
SN  - 1474-760X
UR  - https://doi.org/10.1186/s13059-019-1828-7
A1  - Mahmoud, M
A1  - Gobet, N
A1  - Cruz-Dávalos, DI
A1  - Mounier, N
A1  - Dessimoz, C
A1  - Sedlazeck, FJ
N1  - © The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).
TI  - Structural variant calling: the long and the short of it
N2  - 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.
AV  - public
KW  - De novo assembly
KW  -  Gene fusion
KW  -  Hybrid
KW  -  Long-read
KW  -  Mapping
KW  -  RNA-Seq
KW  -  Short-read
KW  -  Structural variant (SV) detection
IS  - 1
VL  - 20
ER  -