Structural variant analysis for linked-read sequencing data with gemtools.

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Abstract

SUMMARY: Linked-read sequencing generates synthetic long reads which are useful for the detection and analysis of structural variants (SVs). The software associated with 10X Genomics linked-read sequencing, Long Ranger, generates the essential output files (BAM, VCF, SV BEDPE) necessary for downstream analyses. However, to perform downstream analyses requires the user to customize their own tools to handle the unique features of linked-read sequencing data. Here, we describe gemtools, a collection of tools for the downstream and in-depth analysis of structural variants from linked-read data. Gemtools uses the barcoded aligned reads and the Megabase-scale phase blocks to determine haplotypes of structural variant breakpoints and delineate complex breakpoint configurations at the resolution of single DNA molecules. The gemtools package is a suite of tools that provides the user with the flexibility to perform basic functions on their linked-read sequencing output in order to address even more questions.AVAILABILITY AND IMPLEMENTATION: The gemtools package is freely available for download at: https://github.com/sgreer77/gemtools.SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

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