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 ...
The Cytogenetics Laboratory performs chromosome analysis, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (array CGH) on cells prepared from a wide variety of ...
Acacia Research Corporation has announced that, its CombiMatrix group’s subsidiary, CombiMatrix Molecular Diagnostics (CMDX), has launched its Bacterial Artificial Chromosome (BAC) array Comparative ...
Clinical testing using various array comparative genomic hybridization platforms is being incorporated rapidly into cytogenetic testing algorithms. Comprehensive validation of these complex assays ...
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 ...
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 ...
Agilent Technologies Inc. has introduced the SurePrint G3 Human CGH+SNP microarray platform, a system for simultaneous analysis of chromosomal copy number changes and copy-neutral aberrations. The ...
Exome sequencing is a relatively new technique that involves determination of the DNA sequence of the comparatively small proportion of the genome that is expressed as messenger RNA. The technique has ...
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