Article
SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
Cytogenetic and genome research - 1 Jan 2011
de Leeuw N, Hehir-Kwa J Y, Simons A, Geurts van Kessel A, Smeets D F, Faas B H W, Pfundt R
Abstract excerpt
Array-based comparative genomic hybridization analysis of genomic DNA was first applied in postnatal diagnosis for patients with intellectual disability (ID) and/or congenital anomalies (CA). Genome-wide single-nucleotide polymorphism (SNP) array analysis was subsequently implemented as the first line diagnostic test for ID/CA patients in our laboratory in 2009, because its diagnostic yield is significantly...
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