title: Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.
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.
authors.affiliation: Autism and Developmental Medicine Institute, Geisinger Health System, 120 Hamm Drive, Suite 2A, Lewisburg, PA 17837 USA.
authors.forename: Erin Rooney
authors.initials: ER
authors.lastname: Riggs
authors.affiliation: Geisinger Health System, 100 N Academy Ave., Danville, PA 17822 USA.
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.affiliation: Autism and Developmental Medicine Institute, Geisinger Health System, 120 Hamm Drive, Suite 2A, Lewisburg, PA 17837 USA.
authors.forename: Christa Lese
authors.initials: CL
authors.lastname: Martin
keywords: Chromosomal microarray; Copy number variants; Gene dosage; Structural variation