title: Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.
abstract: Many copy number alterations (CNA) currently interpreted as variants of unknown significance (VUS) will ultimately be determined to be benign; however, their classification requires a more extensive characterization of the human genome than currently exists. There is no definitive set of rules or level of evidence required to define a CNA as benign. The information needed to accurately assess the pathogenic impact of CNA is beginning to be assembled. Although the lack of understanding of the human genome can make clinical array-comparative genomic hybridization interpretation frustrating, it is precisely why clinical human genetics is an exciting arena in which to work.
authors: Cytogenetics and Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Robert.Pyatt@nationwidechildrens.org
authors: Robert E
authors: RE
authors: Pyatt
authors: Caroline
authors: C
authors: Astbury
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D056915:DNA Copy Number Variations; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype