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

Human copy number variation and complex genetic disease.

Annual review of genetics - 1 Jan 2011

Girirajan Santhosh, Campbell Catarina D, Eichler Evan E

Abstract excerpt

Copy number variants (CNVs) play an important role in human disease and population diversity. Advancements in technology have allowed for the analysis of CNVs in thousands of individuals with disease in addition to thousands of controls. These studies have identified rare CNVs associated with neuropsychiatric diseases such as autism, schizophrenia, and intellectual disability. In addition, copy number...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to DNA Copy Number Variations
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genome, Human

Share to Intellectual Disability

Share to Linkage Disequilibrium

Share to Schizophrenia

Source

Open in PubMed Open full text

Identifiers

PMID: 21854229
DOI: 10.1146/annurev-genet-102209-163544
PMCID: PMC6662611

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human copy number variation and complex genetic disease.PMID 21854229Read ↗

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

Copy number variation in human health, disease, and evolution.Semantic proximity Read ↗

Copy number variation: new insights in genome diversity.Semantic proximity Read ↗

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Semantic proximity Read ↗

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

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

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

Complex and multi-allelic copy number variation in human disease.Semantic proximity Read ↗

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Semantic proximity Read ↗

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

[Association of common copy number variations with diseases].Semantic proximity Read ↗

Implications of gene copy-number variation in health and diseases.Semantic proximity Read ↗

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