National Genetics Reference Laboratory ( Wessex ) Technology Assessment Comparison for cytogenetics array platforms hardware and software for use in identifying copy number aberrations in constitutional disorders July 2010

@inproceedings{Huang2010NationalGR,
  title={National Genetics Reference Laboratory ( Wessex ) Technology Assessment Comparison for cytogenetics array platforms hardware and software for use in identifying copy number aberrations in constitutional disorders July 2010},
  author={Shuwen Huang and John Anthony Crolla},
  year={2010}
}
Copy number variants have been shown to be associated in a significant proportion of cases presenting with developmental delay and a range of other phenotypes including dysmorphic features with or without congenital anomalies, mental retardation, and autistic spectrum disorders. Array Comparative Genomic Hybridization (aCGH) is now the first line test for patients with these disorders in many laboratories throughout the developed world [1]. Several commercial platforms are available which can… CONTINUE READING