The clinical significance of a copy number variant is usually determined either by observing whether the associated phenotype segregates along with the variant within a family, the rearrangement being ...

In our laboratory, we have used HR-CGH as a screening method for cryptic chromosomal imbalances for several years. In an initial study, we found a cryptic chromosomal imbalance in 5 out of 50 patients ...

In addition to the surprising revelation that our chromosomes harbor fewer genes than originally predicted, the Human Genome Project also unveiled that all individuals share approximately 99.9% of ...

Comparative genomic hybridization (CGH) was developed to identify pathogenic DNA copy-number changes (e.g., duplications, deletions) on a genome-wide scale, and to map these changes to genomic ...