Fig. 1: Analysis workflow for SMA carrier identification. | npj Genomic Medicine

Fig. 1: Analysis workflow for SMA carrier identification.

From: Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan

Fig. 1

Among the 1492 WGS data, 12 were excluded due to the output displaying “None”. We identified 23 SMA carriers, resulting in a carrier rate of 1.55%. A subset of participants with SMN Caller results was further validated using MLPA. WGS whole-genome sequencing, SMA spinal muscular atrophy, SMN survival motor neuron, CN copy number, MLPA multiplex ligation-dependent probe amplification.

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