Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing

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Figure 2.
Figure 2.

DS spike-in test. (A) DNA from four different cell lines (Coriell Cell Repositories; ref: CD00002, NA00711, NA08909, GM18666) was serially diluted into sperm DNA from a young donor in order to prepare four DS libraries (“FGFR3 Y C 1:10,” “FGFR3 Y C 1:100,” “FGFR3 Y C 1:1000,” “FGFR3 Y C 1:10000”) with expected mutant frequencies of 1:10, 1:100, 1:1000, and 1:10000, respectively. DCS coverage and the number of times the variants were found in each library are shown. (B) Expected VAF versus measured VAF with DS; 14 out of the 16 mutations were detected; R2 = 0.96 (Pearson correlation coefficient).

This Article

  1. Genome Res. 32: 499-511

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