Figure 1 | Scientific Reports

Figure 1

From: Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

Figure 1

Sequencing depth and power analysis. (A) Sequencing depth at the position of each variant, after read deduplication. Each boxplot represents the depth values of both parents plus 46 controls. Logarithmic scale on the y axis. (B) Power analysis of the investigated positions. The sequencing noise and depth in controls are integrated to establish the minimum detectable allelic fraction threshold at 80 and 90% power and 5% type-I error after Bonferroni correction for 189 * 2 tests. As an example, a mosaicism above 1% in a parent could theoretically be detected for 87.6% of investigated positions with 80% of power (blue line).

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