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 ...

Clinical testing using various array comparative genomic hybridization platforms is being incorporated rapidly into cytogenetic testing algorithms. Comprehensive validation of these complex assays ...

Microarray based comparative genomic hybridisation (array CGH) is a new technology with uses developing in various diagnostic areas within the NHS. One important context is the investigation of ...

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 ...