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. 2016 Mar 16;7:36. doi: 10.3389/fgene.2016.00036

Figure 1.

Figure 1

Biallelic MUTYH mutation and likely pathogenic deletion in MSH2. (A) Integrative Genomics Viewer images of next generation sequencing data of homozygous c.1187G>A (p.Gly396Asp) sequence variant with reference MUTYH nucleotide and amino acid nomenclature indicated. (B) Array CGH image. Red dots indicate the relevant clinical sample's log2 ratio confirming duplication of exon 7 in MSH2. Gray dots indicate the log2 ratios for seven other control samples. The green line indicates the segmentation by the DNA copy R package.