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

View ORCID ProfileMaria Nattestad, View ORCID ProfileMichael C Schatz
doi: https://doi.org/10.1101/044925
Maria Nattestad
1Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
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Michael C Schatz
1Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
2Department of Computer Science, Johns Hopkins University, Baltimore, MD
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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{at}cshl.edu

Supplementary information: Supplementary data are available at Bioinformatics online.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted March 20, 2016.
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Assemblytics: a web analytics tool for the detection of assembly-based variants
Maria Nattestad, Michael C Schatz
bioRxiv 044925; doi: https://doi.org/10.1101/044925
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Assemblytics: a web analytics tool for the detection of assembly-based variants
Maria Nattestad, Michael C Schatz
bioRxiv 044925; doi: https://doi.org/10.1101/044925

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