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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Fig. 2

Digital droplet analyses of 4 mosaic variants. Two mosaic variants (a, b) were discovered in the current study, and two (c, d) discovered earlier were used as positive-controls. Variant information, alternative-allele frequency and the sample type used are provided for each mutant. Each droplet in a sample is plotted as a graph of fluorescence intensity versus droplet number. All droplets above the threshold intensity indicated by a pink line were scored as ‘positives’ and each assigned a value of 1; ‘negative’ droplets (those below the threshold) were assigned a value of 0. These counts provide a digital signal from which to calculate the starting target DNA concentration by statistical analysis of the numbers of positive and negative droplets in a given sample. NTC, non-template control

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