scholarly journals Induction and recovery of copy number variation in banana through gamma irradiation and low-coverage whole-genome sequencing

2018 ◽  
Vol 16 (9) ◽  
pp. 1644-1653 ◽  
Author(s):  
Sneha Datta ◽  
Joanna Jankowicz-Cieslak ◽  
Stephan Nielen ◽  
Ivan Ingelbrecht ◽  
Bradley J. Till
2016 ◽  
Author(s):  
Ryan L. Collins ◽  
Matthew R. Stone ◽  
Harrison Brand ◽  
Joseph T. Glessner ◽  
Michael E. Talkowski

AbstractSummaryCopy number variation (CNV) is a major component of structural differences between individual genomes. The recent emergence of population-scale whole-genome sequencing (WGS) datasets has enabled genome-wide CNV delineation. However, molecular validation at this scale is impractical, so visualization is an invaluable preliminary screening approach when evaluating CNVs. Standardized tools for visualization of CNVs in large WGS datasets are therefore in wide demand.Methods & ResultsTo address this demand, we developed a software tool, CNView, for normalized visualization, statistical scoring, and annotation of CNVs from population-scale WGS datasets. CNView surmounts challenges of sequencing depth variability between individual libraries by locally adapting to cohort-wide variance in sequencing uniformity at any locus. Importantly, CNView is broadly extensible to any reference genome assembly and most current WGS data types.Availability and ImplementationCNView is written in R, is supported on OS X, MS Windows, and Linux, and is freely distributed under the MIT license. Source code and documentation are available from https://github.com/RCollins13/[email protected]


BMC Genomics ◽  
2012 ◽  
Vol 13 (Suppl 6) ◽  
pp. S16 ◽  
Author(s):  
Angel Janevski ◽  
Vinay Varadan ◽  
Sitharthan Kamalakaran ◽  
Nilanjana Banerjee ◽  
Nevenka Dimitrova

Animals ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. 809
Author(s):  
Donghyeok Seol ◽  
Byung June Ko ◽  
Bongsang Kim ◽  
Han-Ha Chai ◽  
Dajeong Lim ◽  
...  

Copy number variation (CNV) has great significance both functionally and evolutionally. Various CNV studies are in progress to find the cause of human disease and to understand the population structure of livestock. Recent advances in next-generation sequencing (NGS) technology have made CNV detection more reliable and accurate at whole-genome level. However, there is a lack of CNV studies on chickens using NGS. Therefore, we obtained whole-genome sequencing data of 65 chickens including Red Jungle Fowl, Cornish (broiler), Rhode Island Red (hybrid), and White Leghorn (layer) from the public databases for CNV region (CNVR) detection. Using CNVnator, a read-depth based software, a total of 663 domesticated-specific CNVRs were identified across autosomes. Gene ontology analysis of genes annotated in CNVRs showed that mainly enriched terms involved in organ development, metabolism, and immune regulation. Population analysis revealed that CN and RIR are closer to each other than WL, and many genes (LOC772271, OR52R1, RD3, ADH6, TLR2B, PRSS2, TPK1, POPDC3, etc.) with different copy numbers between breeds found. In conclusion, this study has helped to understand the genetic characteristics of domestic chickens at CNV level, which may provide useful information for the development of breeding systems in chickens.


BMC Genomics ◽  
2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Aitor Serres-Armero ◽  
Inna S. Povolotskaya ◽  
Javier Quilez ◽  
Oscar Ramirez ◽  
Gabriel Santpere ◽  
...  

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