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

Copy-number variation in control population cohorts.

Human molecular genetics - 15 Oct 2007

Pinto Dalila, Marshall Christian, Feuk Lars, Scherer Stephen W

Abstract excerpt

Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome, and contributes significantly to genetic heterogeneity. It has already been recognized that some CNVs can contribute to human phenotype, including rare genomic disorders and Mendelian diseases. Other CNVs are now amenable to genome-wide association studies so that their influence on human phenotypic diversity and...

Read the complete abstract on PubMed

Topics

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

Share to Case-Control Studies
Share to Cohort Studies
Share to Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genetics, Population

Share to Genome, Human

Share to Haplotypes

Share to Linkage Disequilibrium

Source

Identifiers

PMID: 17911159
DOI: 10.1093/hmg/ddm241

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

Copy-number variation in control population cohorts.PMID 17911159Read ↗

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

Copy number variations in the human genome and strategies for analysis.Semantic proximity Read ↗

Gene copy number variation and common human disease.Semantic proximity Read ↗

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

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

Population analysis of large copy number variants and hotspots of human genetic disease.Semantic proximity Read ↗

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

Global variation in copy number in the human genome.Semantic proximity Read ↗

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.Semantic proximity Read ↗

Human copy number variation and complex genetic disease.Semantic proximity Read ↗

Genomic Variation: Lessons Learned from Whole-Genome CNV AnalysisSemantic proximity Read ↗

Current analysis platforms and methods for detecting copy number variation.Semantic proximity Read ↗

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