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. 2016 Jul;26(7):874–881. doi: 10.1101/gr.205484.116

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© 2016 Dhokarh and Abyzov; Published by Cold Spring Harbor Laboratory Press

This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

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Figure 3. — Histograms of normalized allele frequency distributions and normalized mutational profile for NA12878. (A) AF distribution for in-phase TruSeq SNPs (red) is between the distribution for deletions (black) and the distribution for out-of-phase TruSeq SNPs (blue), suggesting that it is a superposition of the two. This pattern is consistent with the hypothesis of SNPs being generated simultaneously with the deletions. (B) Mutational profile for in-phase (red) and out-of-phase (blue) TruSeq SNPs. The six possible transversions and transitions are shown, with the normalized count on the vertical axis. The third bar (black) represents personal genome-wide profile based on heterozygous SNPs.