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

Genovar: a detection and visualization tool for genomic variants.

BMC bioinformatics - 8 May 2012

Jung Kwang Su, Moon Sanghoon, Kim Young Jin, Kim Bong-Jo, Park Kiejung

Abstract excerpt

BACKGROUND: Along with single nucleotide polymorphisms (SNPs), copy number variation (CNV) is considered an important source of genetic variation associated with disease susceptibility. Despite the importance of CNV, the tools currently available for its analysis often produce false positive results due to limitations such as low resolution of array platforms, platform specificity, and the type of CNV. To resolve...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human
Share to Comparative Genomic Hybridization
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genomics

Share to Polymorphism, Single Nucleotide

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 22594998
DOI: 10.1186/1471-2105-13-S7-S12
PMCID: PMC3348018

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

Genovar: a detection and visualization tool for genomic variants.PMID 22594998Read ↗

T-CNV: a robust tool for detecting and visualizing copy number variants in targeted sequencing data.Semantic proximity Read ↗

Rapid, Reliable, and Interpretable CNV Curation Visualizations for Diagnostic Settings with SeeNVSemantic proximity Read ↗

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants onlineSemantic proximity Read ↗

ParseCNV integrative copy number variation association software with quality trackingSemantic proximity Read ↗

CONAN: copy number variation analysis software for genome-wide association studies.Semantic proximity Read ↗

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Semantic proximity Read ↗

The effect of algorithms on copy number variant detection.Semantic proximity Read ↗

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

Statistical Detection of Genome Differences Based on CNV Segments.Semantic proximity Read ↗

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROHSemantic proximity Read ↗

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Semantic proximity Read ↗

Identification of recurrent regions of Copy-Number Variants across multiple individuals.Semantic proximity Read ↗

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