The frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies.

Purpose: To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications. Methods: We have developed a high-resolution comparative genomic ...

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 ...

Early efforts to examine genomic changes in the clinical setting relied on cytogenetic techniques such as chromosome karyotyping, a widely used approach to examine chromosomes and identify changes ...