Compared with MLPA (6.69%) and quantitative polymerase chain reaction (qPCR) (5%)—another common method used for SMN1 gene copy number screening—NGS had the lowest retest rate at 2.74% ...

In Group 1, 2:2 (survival motor neuron 1 ... underlying causes is needed to avert misclassification of the copy number of the SMN1 gene. Although DHPLC has been successfully used in SMA carrier ...

All the couples, offspring and pregnancies were tested for deletions, SMN1 copy number and for C272 ... III cases had a distortion of the 2/3 (66%) expected number of carriers.

The researchers used Paraphase on more than 400 samples of spinal muscular atrophy (SMA) comprising 5 ethnicities. The informatics method, called Paraphase, uses PacBio HiFi data to detect full ...

Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atrophy (SMA) ...