Table 1. Coverage across the cohort over PKD1, PKD2 and the whole genome.
Average | 95% confidence interval | Range | |
---|---|---|---|
PKD1 | |||
Mean coverage | 29.8 | 28.7–30.9 | 24.8–36.8 |
% bases covered >5 × | 99.4 | 99.1–99.7 | 97.8–100 |
% bases covered >10 × | 98.9 | 98.5–99.3 | 96.5–100 |
% bases covered >15 × | 97.3 | 96.7–97.9 | 93.4–99.9 |
% bases covered >20 × | 92.8 | 91.5–94.1 | 84.8–97.7 |
PKD2 | |||
Mean coverage | 31.1 | 30.1–32.1 | 26.1–36.8 |
% bases covered >5 × | 99.9 | 99.9–99.9 | 99.6–100 |
% bases covered >10 × | 99.5 | 99.2–99.8 | 97.5–100 |
% bases covered >15 × | 98.5 | 97.9–99.1 | 94.7–100 |
% bases covered >20 × | 94.9 | 93.6–96.2 | 87.6–98.5 |
Whole genome | |||
Mean coverage | 31.9 | 31.0–32.8 | 28.4–36.1 |
% bases covered >5 × | 97.2 | 97.0–97.4 | 96.4–97.9 |
% bases covered >10 × | 96.1 | 95.9–96.3 | 94.9–97.0 |
% bases covered >15 × | 92.9 | 92.3–93.5 | 89.4–95.5 |
% bases covered >20 × | 85.0 | 83.6–86.4 | 77.7–91.6 |
Mean coverage and the percentage of bases covered to a minimum depth of 5 times, 10 times, 15 times and 20 times across the protein coding exons of PKD1, PKD2 and the whole genome. To assess coverage, PCR duplicates were filtered, and reads with MQ≥0 were used for the whole genome, and reads with MQ≥20 for PKD1 and PKD2.