SV-Pop: population-based structural variant analysis and visualization.
BACKGROUND
Genetic structural variation underpins a multitude of phenotypes, with significant implications for a range of biological outcomes. Despite their crucial role, structural variants (SVs) are often neglected and overshadowed by single nucleotide polymorphisms (SNPs), which are used in large-scale analysis such as genome-wide association and population genetic studies.


RESULTS
To facilitate the high-throughput analysis of structural variation we have developed an analytical pipeline and visualisation tool, called SV-Pop. The utility of this pipeline was then demonstrated through application with a large, multi-population P. falciparum dataset.


CONCLUSIONS
Designed to facilitate downstream analysis and visualisation post-discovery, SV-Pop allows for straightforward integration of multi-population analysis, method and sample-based concordance metrics, and signals of selection.
['Ravenhall|Matt|M|http://orcid.org/0000-0002-7818-2348', 'Campino|Susana|S|', 'Clark|Taane G|TG|']
D019295:Computational Biology D006136:GTP Cyclohydrolase D056726:Genetic Association Studies D040342:Genetic Structures D005828:Genetics, Population D023281:Genomics D059014:High-Throughput Nucleotide Sequencing D010641:Phenotype D010963:Plasmodium falciparum D020641:Polymorphism, Single Nucleotide D011401:Promoter Regions, Genetic D015800:Protozoan Proteins
Structural variation Analytics Bioinformatics Population genomics Python R Shiny