Quantitative Analysis of Copy Number Variants Based on ...
Introduction. Quantitative PCR (qPCR) has been utilized for the analysis of gene expression (Heid et al., 1996; Higuchi et al., 1991) and quantification of copy number variation by real-time PCR. qPCR involves amplification of a test locus with unknown copy number and a reference locus with known copy number.This method has been used in the determination of SMN1 and SMN2 copy number for spinal ...