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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

Fig. 4

Results from the MLPA analysis in 60 subjects. a. Carrier probability for each sample stratified by MLPA category. b. Ratio of SMN1 exon 7 to reference sample versus carrier probability for each sample. Vertical lines at 0.7 and 1.3 represent thresholds for copy number loss and gain, respectively. In both (a) and (b), tan, black, and green points represent samples that have less than, equal, and more than two copies of SMN1 exon 7, respectively

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BMC Medical Genetics

ISSN: 1471-2350

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