title: SNP genotyping with the next generation of CGH microarray.
abstract: Enabling the simultaneous detection of CNV and copy-neutral aberrations within one test, the combined aCGH and SNP array has the potential to vastly improve both workflow efficiency and productivity within the cytogenetics research laboratory. The applications of the combined array are summarized in Figure 4. Standard aCGH is a rapid, sensitive, and high-throughput approach for CNV detection, and although central to many cytogenetic studies, approximately 80% of developmental disorder samples yield a normal result, highlighting the need for additional information. Incorporating SNP analysis into the aCGH array provides insight into the underlying genetic causes, while retaining the benefits of the well-established aCGH platform. In many cases this removes the need for time-consuming follow-up studies, and is particularly beneficial considering the costs and labor involved in a high-resolution SNP array. Due to the prevalence of ancestral ROH, it is clear that there is little additional benefit to analyzing ROH at high resolution, which adds to the complexity of the data, increasing the laboratory workload. The most effective combined aCGH and SNP arrays instead provide sufficient resolution to detect abnormally long ROH stretches present in UPD or consanguineous samples, while excluding standard length ancestral ROH that are not biologically relevant, without compromising CNV detection. his new generation of combined aCGH and SNP array presents a high-throughput and efficient alternative to high-resolution SNP platforms, incorporating SNP analysis into existing aCGH workflows, and yielding unique biological insights with minimal additional cost.
authors.affiliation: CytoSure Arrays at Oxford Gene Technology.
authors.forename: Ruth
authors.initials: R
authors.lastname: Burton
mesh_terms: D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D046228:Microarray Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D014481:United States