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.

Array-based comparative genomic hybridization is ushering in a new standard for analyzing the genome, overcoming the limits of resolution associated with conventional G-banded karyotyping. The first ...

Array comparative genomic hybridization (CGH) is illuminating DNA copy number variations (CNV) throughout the genome to diagnose disease etiology and to help tailor treatment regimens for patients to ...

Chromosome rearrangements are commonly associated with multiple disease states such as cancer and many developmental syndromes, including Down’s syndrome and autism spectrum disorders. The ...