Fig. 2
Estimation of stochastic variability between technical replicate targeted sequencing experiments within the same individual. a Schematic representation of intersection–union test (IUT) on technical replicate data generated independently in triplicate (R1, R2 and R3). The probability density function was generated from technical replicate data of a single individual (ID3866) with least variable input sequence data. The IUT is performed at preset thresholds to test for low stochastic variability (H 0 ) or the alternative hypothesis of high stochastic variability (H 1 ) (b) Area-proportional Euler Venn diagram (eulerAPE v3.0) of targeted bases sequenced in three technical replicates R1, R2 and R3 at ≥20x. The square represents the total targeted bases, and area in white as the total number of targeted bases not sequenced at a given threshold (≥20x). c Area-proportional Euler Venn diagram (eulerAPE v3.0) of targeted bases sequenced in three technical replicates R1, R2 and R3 at ≥1x. The square represents the total targeted bases (not proportional relative to the circles), and area in white as the total number of targeted bases not sequenced at a given threshold (≥1x)