Journal
BMC BIOINFORMATICS
Volume 20, Issue -, Pages -Publisher
BMC
DOI: 10.1186/s12859-019-2718-4
Keywords
Population genomics; Structural variation; Bioinformatics; Analytics; Python; R; Shiny
Categories
Funding
- Biotechnology and Biological Sciences Research Council [BB/J014567/1]
- Medical Research Council UK [MR/M01360X/1, MR/N010469/1]
- BBSRC [BB/R013063/1]
- BBSRC [BB/R013063/1] Funding Source: UKRI
- MRC [MR/M01360X/1, MR/N010469/1] Funding Source: UKRI
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BackgroundGenetic 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.ResultsTo 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.ConclusionsDesigned 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.
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