Figure 4.

Distribution of variant counts. An estimated total of 1984 variants (corrected for false-positives from the observed 2107 autosomal ROI variants) were identified in ROIs among 250 ClinSeq participants (see text for details). The number of times each variant was detected is depicted, in each case broken down relative to its presence or absence in dbSNP. Note that the x-axis is discontinuous beyond a count of 25, and the allele counts greater than 25 are presented in bins of 25; also note that the y-axis uses a logarithmic scale. The data show that 966 variants are unique (i.e., a minor allele count of 1), and, in fact, comprise about half of the variants detected in this data set (792 not in dbSNP and 174 in dbSNP).