Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

ABSTRACT: In clinical diagnostics, both array comparative genomic hybridization (array CGH) and single nucleotide polymorphism (SNP) genotyping have proven to be powerful genomic technologies utilized for the evaluation of developmental delay, multiple congenital anomalies, and neuropsychiatric disorders. Differences in the ability to resolve genomic changes between these arrays may constitute an implementation challenge for clinicians: which platform (SNP vs array CGH) might best detect the underlying genetic cause for the disease in the patient? While only SNP arrays enable the detection of copy number neutral regions of absence of heterozygosity (AOH), they have limited ability to detect single-exon copy number variants (CNVs) due to the distribution of SNPs across the genome. To provide comprehe

SUBMITTER: Wiszniewska J 

PROVIDER: S-EPMC3865406 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature