Article

SMN1 and SMN2 Copy Number Determination by droplet digital PCR (ddPCR) based on Extreme Value Theory for Threshold Estimation

2017-11-16

Abstract excerpt

Spinal muscular atrophy (SMA) is the most frequent genetic cause of infantile death. Homozygous deletion screening of survival of motor neuron (SMN1) represents the first tier in diagnostic testing. In this work, we adopted and optimized a method to increase the accuracy of SMN1 and SMN2 copy number determination on ddPCR platform. This method, which makes no assumption about the distribution of the fluorescence r...

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Literature Corpus work: f69f9e1c-3f9e-5af9-8e35-ae0f1a18f602
DOI: 10.1101/220020

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