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 variations in the human genome and strategies for analysis.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2010

Vucic Emily A, Thu Kelsie L, Williams Ariane C, Lam Wan L, Coe Bradley P

Abstract excerpt

The structure and sequence of the genome is immensely variable in the human population. Segmental copy number variants (CNVs) contribute to the extensive phenotypic diversity among humans and have been shown to associate with disease susceptibility. In this article, we provide a detailed review of human genetic variations and the experimental approaches used to discover, catalog, and genotype CNVs.

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Techniques

Share to Genome, Human

Source

Identifiers

PMID: 20238078
DOI: 10.1007/978-1-60327-367-1_6

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 variations in the human genome and strategies for analysis.PMID 20238078Read ↗

Mutational and selective effects on copy-number variants in the human genome.Semantic proximity Read ↗

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

Strategies for the detection of copy number and other structural variants in the human genome.Semantic proximity Read ↗

A comprehensive analysis of common copy-number variations in the human genome.Semantic proximity Read ↗

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

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

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

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

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

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

[Copy number variations in the human genome: their mutational mechanisms and roles in diseases].Semantic proximity Read ↗

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

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