Article

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

2016-03-20

Abstract excerpt

<h4>Summary:</h4> 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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1c820455-f24d-5230-8135-b5ff3a8a76d7
DOI: 10.1101/044925

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Assemblytics: a web analytics tool for the detection of assembly-based variantsDOI 10.1101/044925Read

Assemblytics: a web analytics tool for the detection of variants from an assembly.Semantic proximity Read

SvABA: Genome-wide detection of structural variants and indels by local assemblySemantic proximity Read

Comparison and benchmark of long-read based structural variant detection strategiesSemantic proximity Read

Genome assembly comparison identifies structural variants in the human genome.Semantic proximity Read

The new Ensembl Alignments viewer tool for exploring genomic structural variationSemantic proximity Read

ABRA: improved coding indel detection via assembly-based realignment.Semantic proximity Read

DangerTrack: A scoring system to detect difficult-to-assess regionsSemantic proximity Read

Alternate-locus aware variant calling in whole genome sequencing.Semantic proximity Read

Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural VariantsSemantic proximity Read

Large complex structural rearrangements in human genomes harbor cryptic structuresSemantic proximity Read

VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencingSemantic proximity Read

Portello: Making global assembly more effective for rare-disease whole genome sequencingSemantic proximity Read