Figure 4

Confidence in phasing calls is dependant on coverage. (a) Association matrices from each spiked library show the relationship between the two disease-causing heterozygous positions in this specimen. Highlighting of the bases at each locus indicates wild-type (green) and mutant (red). (b) The probabilities and 99% confidence intervals for all possible IVS2-13 base calls associated with each c.60G/A allele are shown for all four amplicon spiked libraries. Coverage increases linearly as spike concentration increases. (c) Average confidence interval (CI) width was calculated to evaluate the level of coverage required for confident heterozygote association. A simulation run to test varying coverage and observed data points both indicate that coverage beyond 500× provides diminishing returns in CI width.