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August 07, 2020
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Thermo Fisher Scientific

The challenge of sequencing SMN1/2 genes for spinal muscular atrophy research

Case Study

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The most severe forms of spinal muscular atrophy (SMA) are considered to be a leading genetic cause of infant mortality. As a result, SMA is a very important disorder for carrier screening research studies. SMN1 and SMN2 are very similar in sequence: the functional difference between the two is a single nucleotide change—from a cytosine to a thymine in exon 7. This homology presents special challenges for NGS technologies commonly used in expanded carrier screening research. In this eCase study, Dr.

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