Skip to main content

Table 2 Substitution frequencies at sequence contexts associated with DNA sequencing errors

From: Large-scale inference of the point mutational spectrum in human segmental duplications

Substitution context SNPs DIMs
A(G/H)N 14.24 (158,901/1,115,692) 14.62 (50,277/343,864)
C(A/Y)C 0.38 (4,250/1,115,692) 0.45 (1,542/343,864)
G(A/C)C 1.14 (12,697/1,115,692) 1.42 (4,866/343,864)
  1. A comparison of nucleotide substitution percentages in DIMs and high-quality SNPs at three sequence contexts previously shown to be overrepresented in false positive SNPs [27]. The percentages of substitutions are shown along with raw counts in parentheses. H stands for A, C or T, Y stands for C or T and N stands for any base.