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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Fig. 2

A combination of SNV and CNV in RPS6KC1 in BAB6797. a CoNVex reveals a 42 kb heterozygous deletion (chr1:g.213403839_213445978del) in RPS6KC1 in BAB6797 (family 025). There is a SNV (NM_001287219.1:c.2074G > A:p.Gly692Ser) uncovered by this deletion. Gray dotted line: the read depth of other samples in the cohort; red line: the read depth for BAB6797; pink line: the predicted deletion region. b Droplet Digital PCR (ddPCR) detects heterozygous deletion of RPS6KC1 in proband BAB6797 and father BAB6799 but not in mother BAB6798; primer pair targeting RPS6KC1 around chr1:g.213415529[hg19] and three control primer pairs targeting copy-number neutral regions were used to perform ddPCR. Absolute positive droplet concentrations (copies/ul) are plotted from ddPCR results for each primer pair in each sample. Positive droplet concentrations of BAB6797 and BAB6799 for the RPS6KC1 primer pair (around 300 bp) are approximately half of the value in BAB6798 and the results from all control primers (around 600 bp), indicating heterozygous deletion of the RPS6KC1 gene in BAB6797 and BAB6799, but not in BAB6798. Corresponding raw data of ddPCR and primer sequences are shown in Table S5 . Ctrl, control. c This deletion is also confirmed by a customized array. The combination of SNV and CNV in RPS6KC1 segregates in the family. d Breakpoint junction is mapped to chr1:g.213396378-213592823[hg19] by long-range PCR and Sanger sequencing of the junction

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