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Review
. 2014 Jul 18;2(3):146-150.
doi: 10.1007/s40142-014-0048-4. eCollection 2014.

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

Erin Rooney Riggs  1 , David H Ledbetter  2 , Christa Lese Martin  1
Affiliations
Review

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

Erin Rooney Riggs et al. Curr Genet Med Rep. .

Abstract

One of the most fundamental goals of the study of human genetics was to determine the relationship between genomic variation and human disease. The effects of large-scale structural variation, such as aneuploidy and other cytogenetically visible imbalances, as well as sequence-level variation, have been studied for several decades. However, compared to these, the impact of submicroscopic copy number variants (CNV) has only recently been appreciated. Despite this, lessons learned from the study of CNVs have already proven significant and broadly applicable. From expanding the concept of normal human variation to providing concrete examples of the utility of genomics in clinical care and challenging notions of the genetic architecture of complex disease, CNVs have provided valuable insights into the genomics of human health and development.

Keywords: Chromosomal microarray; Copy number variants; Gene dosage; Structural variation.

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