Journal
BIOINFORMATICS
Volume 32, Issue 19, Pages 3021-3023Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btw369
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Funding
- National Science Foundation [DBI-1350041]
- National Human Genome Research Institute [R01-HG006677]
- Div Of Biological Infrastructure
- Direct For Biological Sciences [1627442] Funding Source: National Science Foundation
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Assemblytics is a web app for detecting and analyzing 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.
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