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Genomic DNA from blood samples of the subject with HCS was sequenced by next generation sequencing on Ion Torrent (Thermo Fisher) for the coding sequence of the NOTCH2 gene. The representation of the reads aligned to the reference genome, as provided by the Integrative Genomics Viewer software (IGV v 2.1, Broad Institute), shows a 1:1 signal ratio of C (blue) to T (red) at nucleotide 6667 demonstrating the presence of a heterozygous 6667C>T mutation.
