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Fig. 2 | Alzheimer's Research & Therapy

Fig. 2

From: Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H

Fig. 2

Digital droplet PCR validation of the exome sequencing data. For each patient, a 2D dot plot is shown, reporting the distribution of fluorescence (on the y-axis FAM amplitude, and on the x-axis HEX amplitude). FAM and HEX are the fluorescent dyes for the SEZ6 mutant and SEZ6 wild type, respectively. On the basis of the fluorescence measurements and the droplet distributions, thresholds (pink lines) were set to 5000 for the FAM channel (y-axis) and 3000 for the HEX channel (x-axis). Negative droplets (gray), FAM-positive (blue), HEX-positive (green), and FAM/HEX double-positive (orange) droplets are reported for the four cases and no-template control (NTC) analyzed. Each case represents the sum of independent reactions

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Alzheimer's Research & Therapy

ISSN: 1758-9193