Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Visualization tools for human structural variations identified by whole-genome sequencing.

Journal of human genetics - 1 Jan 2020

Yokoyama Toshiyuki T, Kasahara Masahiro

Abstract excerpt

Visualizing structural variations (SVs) is a critical step for finding associations between SVs and human traits or diseases. Given that there are many sequencing platforms used for SV identification and given that how best to visualize SVs together with other data, such as read alignments and annotations, depends on research goals, there are dozens of SV visualization tools designed for different research goals...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Variation
Share to Genome, Human
Share to Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Software

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 31666648
DOI: 10.1038/s10038-019-0687-0
PMCID: PMC8075883

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Visualization tools for human structural variations identified by whole-genome sequencing.PMID 31666648Read ↗

Complex structural variant visualization with SVTopoSemantic proximity Read ↗

VisVariant: A java program to visualise genetic variants in next-generation sequencing dataSemantic proximity Read ↗

Savant: genome browser for high-throughput sequencing data.Semantic proximity Read ↗

Overview of structural variation calling: Simulation, identification, and visualization.Semantic proximity Read ↗

Oviz-Bio: a web-based platform for interactive cancer genomics data visualization.Semantic proximity Read ↗

SVPopEx: Population-Wide Visualization and Exploration of Structural VariantsSemantic proximity Read ↗

igv-reports: embedding interactive genomic visualizations in HTML reports to aid variant review.Semantic proximity Read ↗

CircosVCF: circos visualization of whole-genome sequence variations stored in VCF files.Semantic proximity Read ↗

KmerSV: a visualization and annotation tool for structural variants using Human Pangenome derived k-mersSemantic proximity Read ↗

GenPlay Multi-Genome, a tool to compare and analyze multiple human genomes in a graphical interface.Semantic proximity Read ↗

Overview of Genomic Tools for Circular Visualization in next-Generation Genomic Sequencing EraSemantic proximity Read ↗

The personal genome browser: visualizing functions of genetic variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.