Nature

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Detection of copy-number variation (CNV) is important for investigating many genetic disorders. Testing a large clinical cohort by array comparative genomic hybridization provides a deep perspective ...
Nature

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

Array-based comparative genomic hybridization (aCGH) has revealed copy-number variations (CNVs) to be the cause of MR. 6, 7, 8 Although Tarpey et al. 4 screened for mutations in the coding regions of ...