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

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

PloS one - 1 Jan 2012

Carr Ian M, Diggle Christine P, Khan Kamron, Inglehearn Chris, McKibbin Martin, Bonthron David T, Markham Alexander F, Anwar Rashida, Dobbie Angus, Pena Sergio D J, Ali Manir

Abstract excerpt

Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (<1Kb), a significant proportion of genetic variability is due to copy number variation (CNV). The possible role of CNV in monogenic and complex diseases has recently attracted considerable interest. However, until the development of whole genome, oligonucleotide micro-arrays,...

Read the complete abstract on PubMed

Topics

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

Share to Aniridia
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Family Health

Share to Genome, Human

Share to Loss of Heterozygosity

Share to Oligonucleotide Array Sequence Analysis

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 22912880
DOI: 10.1371/journal.pone.0043466
PMCID: PMC3422275

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

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.PMID 22912880Read ↗

Methods and strategies for analyzing copy number variation using DNA microarrays.Semantic proximity Read ↗

CNVineta: a data mining tool for large case-control copy number variation datasets.Semantic proximity Read ↗

The impact of human copy number variation on a new era of genetic testingSemantic proximity Read ↗

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsSemantic proximity Read ↗

The clinical context of copy number variation in the human genome.Semantic proximity Read ↗

Copy number variants, diseases and gene expression.Semantic proximity Read ↗

Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status.Semantic proximity Read ↗

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.Semantic proximity Read ↗

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.Semantic proximity Read ↗

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

Array-based DNA diagnostics: let the revolution begin.Semantic proximity Read ↗

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.Semantic proximity Read ↗

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