Novel applications of array comparative genomic hybridization in molecular diagnostics.
Sau Wai CheungWeimin BiPublished in: Expert review of molecular diagnostics (2018)
In 2004, the implementation of array comparative genomic hybridization (array comparative genome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus. Area covered: In this review, the authors summarize the evolution of array CGH technology from their diagnostic laboratory, highlighting exonic SNP arrays developed in the past decade which detect small intragenic copy number changes as well as large DNA segments for the region of heterozygosity. The applications of array CGH to human diseases with different modes of inheritance with the emphasis on autosomal recessive disorders are discussed. Expert commentary: An exonic array is a powerful and most efficient clinical tool in detecting genome wide small copy number variants in both dominant and recessive disorders. However, whole-genome sequencing may become the single integrated platform for detection of copy number changes, single-nucleotide changes as well as balanced chromosomal rearrangements in the near future.
Keyphrases
- copy number
- genome wide
- mitochondrial dna
- high resolution
- dna methylation
- intellectual disability
- high density
- high throughput
- label free
- clinical practice
- single molecule
- primary care
- endothelial cells
- loop mediated isothermal amplification
- healthcare
- gene expression
- induced pluripotent stem cells
- cell free
- tandem mass spectrometry