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Tersect: a set theoretical utility for exploring sequence variant data

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SUMMARY Comparing genomic features among a large panel of individuals across the same species is considered nowadays a core part of the bioinformatics analyses. This typically involves a series of… Click to show full abstract

SUMMARY Comparing genomic features among a large panel of individuals across the same species is considered nowadays a core part of the bioinformatics analyses. This typically involves a series of complex theoretical expressions to compare, intersect, extract symmetric differences between individuals within a large set of genotypes. Several publically available tools are capable of performing such tasks, however, due to the sheer size of variants being queried, such tasks can be computationally expensive with a runtime ranging from few minutes up to several hours depending on the dataset size. This makes existing tools unsuitable for interactive data query or as part of genomic data visualization platforms such as genome browsers. Tersect is a lightweight, high-performance command-line utility which interprets and applies flexible set theoretical expressions to sets of sequence variant data. It can be used both for interactive data exploration and as part of a larger pipeline thanks to its highly optimized storage and indexing algorithms for variant data. AVAILABILITY AND IMPLEMENTATION Tersect was implemented in C and released under the MIT licence. Tersect is freely available at https://github.com/tomkurowski/tersect. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.

Keywords: set theoretical; variant data; tersect set; utility; sequence variant

Journal Title: Bioinformatics
Year Published: 2020

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