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

Hidden copy number variation in the HapMap population.

Proceedings of the National Academy of Sciences of the United States of America - 22 Jul 2008

Marioni John C, White Michael, Tavaré Simon, Lynch Andrew G

Abstract excerpt

Recently, the extent of copy number variation (CNV) throughout the genome has been shown to be far greater than previously thought. Further, it has been demonstrated that specific copy number variable regions (CNVRs) are associated with particular diseases, suggesting that these genetic variation...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Databases, Genetic
Share to Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetics, Population

Share to Genome, Human

Share to Likelihood Functions

Share to Models, Genetic

Share to Oligonucleotide Array Sequence Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 18632583
DOI: 10.1073/pnas.0711252105
PMCID: PMC2481329

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18632583-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hidden copy number variation in the HapMap population.PMID 18632583Read ↗

Population-genetic nature of copy number variations in the human genome.Semantic proximity Read ↗

Extending genome-wide association studies to copy-number variation.Semantic proximity Read ↗

Systematic assessment of copy number variant detection via genome-wide SNP genotyping.Semantic proximity Read ↗

Copy-number variation and association studies of human disease.Semantic proximity Read ↗

Modeling genetic inheritance of copy number variations.Semantic proximity Read ↗

Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests.Semantic proximity Read ↗

Influences of rare copy-number variation on human complex traits.Semantic proximity Read ↗

On the frequency of copy number variants.Semantic proximity Read ↗

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.Semantic proximity Read ↗

The functional impact of copy number variation in the human genomeSemantic proximity Read ↗

Analysis of Population-Genetic Properties of Copy Number Variations.Semantic proximity Read ↗

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.Semantic proximity Read ↗

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