Assemblytics: a web analytics tool for the detection of assembly-based variants

Abstract

Summary: Assemblytics is a web app for detecting and analyzing structural variants from a de novo genome assembly aligned to a reference genome. It incorporates a unique anchor filtering approach to increase robustness to repetitive elements, and identifies six classes of variants based on their distinct alignment signatures. Assemblytics can be applied both to comparing aberrant genomes, such as human cancers, to a reference, or to identify differences between related species. Multiple interactive visualizations enable in-depth explorations of the genomic distributions of variants. Availability and Implementation: http://qb.cshl.edu/assemblytics, https://github.com/marianattestad/assemblytics Contact: mnattest@cshl.edu