scholarly journals Long-read-based human genomic structural variation detection with cuteSV

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Tao Jiang ◽  
Yongzhuang Liu ◽  
Yue Jiang ◽  
Junyi Li ◽  
Yan Gao ◽  
...  
2019 ◽  
Author(s):  
Tao Jiang ◽  
Bo Liu ◽  
Yue Jiang ◽  
Junyi Li ◽  
Yan Gao ◽  
...  

AbstractLong-read sequencing enables the comprehensive discovery of structural variations (SVs). However, it is still non-trivial to achieve high sensitivity and performance simultaneously due to the complex SV characteristics implied by noisy long reads. Therefore, we propose cuteSV, a sensitive, fast and scalable long-read-based SV detection approach. cuteSV uses tailored methods to collect the signatures of various types of SVs and employs a clustering-and-refinement method to analyze the signatures to implement sensitive SV detection. Benchmarks on real PacBio and ONT datasets demonstrate that cuteSV has better yields and scalability than state-of-the-art tools. cuteSV is available at https://github.com/tjiangHIT/cuteSV.


2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Vincent Loiseau ◽  
Elisabeth A Herniou ◽  
Yannis Moreau ◽  
Nicolas Lévêque ◽  
Carine Meignin ◽  
...  

Abstract Our knowledge of the diversity and frequency of genomic structural variation segregating in populations of large double-stranded (ds) DNA viruses is limited. Here, we sequenced the genome of a baculovirus (Autographa californica multiple nucleopolyhedrovirus [AcMNPV]) purified from beet armyworm (Spodoptera exigua) larvae at depths >195,000× using both short- (Illumina) and long-read (PacBio) technologies. Using a pipeline relying on hierarchical clustering of structural variants (SVs) detected in individual short- and long-reads by six variant callers, we identified a total of 1,141 SVs in AcMNPV, including 464 deletions, 443 inversions, 160 duplications, and 74 insertions. These variants are considered robust and unlikely to result from technical artifacts because they were independently detected in at least three long reads as well as at least three short reads. SVs are distributed along the entire AcMNPV genome and may involve large genomic regions (30,496 bp on average). We show that no less than 39.9 per cent of genomes carry at least one SV in AcMNPV populations, that the vast majority of SVs (75%) segregate at very low frequency (<0.01%) and that very few SVs persist after ten replication cycles, consistent with a negative impact of most SVs on AcMNPV fitness. Using short-read sequencing datasets, we then show that populations of two iridoviruses and one herpesvirus are also full of SVs, as they contain between 426 and 1,102 SVs carried by 52.4–80.1 per cent of genomes. Finally, AcMNPV long reads allowed us to identify 1,757 transposable elements (TEs) insertions, 895 of which are truncated and occur at one extremity of the reads. This further supports the role of baculoviruses as possible vectors of horizontal transfer of TEs. Altogether, we found that SVs, which evolve mostly under rapid dynamics of gain and loss in viral populations, represent an important feature in the biology of large dsDNA viruses.


2016 ◽  
Vol 16 (2) ◽  
pp. fov118 ◽  
Author(s):  
Ke Zhang ◽  
Li-Jie Zhang ◽  
Ya-Hong Fang ◽  
Xin-Na Jin ◽  
Lei Qi ◽  
...  

Science ◽  
2021 ◽  
Vol 372 (6537) ◽  
pp. 43.11-45
Author(s):  
Laura M. Zahn

PLoS ONE ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. e0226340 ◽  
Author(s):  
George W. Cook ◽  
Michael G. Benton ◽  
Wallace Akerley ◽  
George F. Mayhew ◽  
Cynthia Moehlenkamp ◽  
...  

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Rongxin Shen ◽  
Lan Wang ◽  
Xupeng Liu ◽  
Jiang Wu ◽  
Weiwei Jin ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document