Roche NimbleGen has announced the launch of comparative genomic hybridization (CGH) arrays and services for the high-resolution mapping of genomic copy-number differences based on the company’s new ...

High-throughput genome-wide screening methods to detect subtle genomic imbalances are extremely important for diagnostic genetics and genomics. Here, we provide a detailed protocol for a ...

Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian ...

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 ...

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 ...