Ontology highlight
ABSTRACT: Unlabelled
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.Availability and implementation
http://assemblytics.com, https://github.com/marianattestad/assemblyticsContact
mnattest@cshl.eduSupplementary information
Supplementary data are available at Bioinformatics online.
SUBMITTER: Nattestad M
PROVIDER: S-EPMC6191160 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Nattestad Maria M Schatz Michael C MC
Bioinformatics (Oxford, England) 20160617 19
<h4>Unlabelled</h4>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 interacti ...[more]