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Updated: Jun 22, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Genomic copy number variation, human health, and disease
Louise V Wain1, John A L Armour, Martin D Tobin
1Department of Health Sciences and Department of Genetics, University of Leicester, Leicester, UK.
Abstract:
Despite the long recognised effects of chromosomal structural abnormalities and completion of the Human Genome Project, much of the structural variation in the genome has gone unrecognised until recently. Deletions and duplications of DNA strands of between a few hundred bp and several million bp-collectively referred to as copy number variants-are now known to be widespread. Since 2007, rigorous and adequately powered genome-wide association studies based on single nucleotide polymorphisms have yielded replicated associations to several common diseases. Some copy number variants explain rare, previously uncharacterised disorders, and they are now expected to explain some of the genetic contribution to common diseases. We review efforts to map copy number variants and discuss present and future prospects for assessment of their relation to human health and disease.
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