Additional file 7.
Mean allele balances for heterozygous single nucleotide variants. (a-e) Allele balances are given for the heterozygous SNVs in the whole genome (a), in each exome capture method's own CTR (b), in each exome capture method's own CTR and flanking the 100 bp (c), in the CCDS annotated exon regions (d) and the common regions targeted for capture in all the methods (e) for different minimum sequencing coverages. In (a, b), allele balances are given for the control I sample (bars without outline) and for the mean values from the 26 additional exome samples (bars with thick outline). The ideal allele balance of 0.5 is indicated with a red line. Regions including mostly non-targeted base pairs, as in the whole genome and CTR + flanking regions, had a mean allele balance closer to 0.5 than the regions with only targeted base pairs. Additionally, allele balance was shifted away from the 0.5 with increasing minimum sequencing depth.
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Sulonen et al. Genome Biology 2011 12:R94 doi:10.1186/gb-2011-12-9-r94