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. Author manuscript; available in PMC: 2015 Apr 14.
Published in final edited form as: Clin Chem. 2014 Aug 11;60(11):1390–1392. doi: 10.1373/clinchem.2014.230276

Fig. 1. DNA variation present within the genomes of fraternal twins with the same genetic disease. Venn diagrams represent the number of DNA nucleotide variants that are both shared and unique to each twin at each stage of data analysis.

Fig. 1

Compared to a standard reference genome (hg18) the twins share 1.6 million variants. Of these variants, 9500 are in protein coding regions and approximately half are predicted to result in changes at the protein level (4600; nonsynonymous). On the basis of population data on DNA variation, a subset of 77 variants are seen with a population frequency appropriate for a rare genetic disease. On the basis of extensive review of the literature and clinical correlation, 3 likely candidate genes were selected by the authors of the study. M, million; K, thousand. [Adapted from data presented by Bainbridge et al. (15).]