SNP Arrays: Comparing Diagnostic Yields for Four Platforms in Children with Developmental Delay

Guylaine D’Amours,Mathieu Langlois,Géraldine Mathonnet,Raouf Fetni,Sonia Nizard,Myriam Srour,Frédérique Tihy,Michael S Phillips,Jacques L Michaud,Emmanuelle Lemyre

BMC medical genomics（2014）

引用 18|浏览19

关键词

Comparative genomic hybridization (CGH),Congenital abnormalities,Consanguinity,DNA copy number variation (CNV),Intellectual disability,Loss of heterozygosity (LOH),Microarray analysis,Single nucleotide polymorphism (SNP),Uniparental disomy (UPD)

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