Using iPSCs and genomics to catch CNVs in the act
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Updated: Apr 18, 2026

qPCRTag Analysis - A High Throughput, Real Time PCR Assay for Sc2.0 Genotyping
Published on: May 25, 2015
Alexander Eckehart Urban1, Carolin Purmann1
1Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.
Abstract:
Large copy number variants (CNVs) are strongly associated with morphogenetic processes and common neurodevelopmental disorders. A new study uses the example of Williams-Beuren syndrome (WBS) and Williams-Beuren region duplication syndrome to illustrate how induced pluripotent stem cells (iPSCs) and next-generation genomics can lead to a better understanding of complex genetics.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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