Fig. 1

Independent technical replicate target exome capture and aggregate data alignment results for a six member multiple generation family. a Probability density function plots of three independent library targeted exome capture experiments as a function of depth of sequencing per targeted base (X) categorized by each member of the six member 3 generation family. b Mean depth of coverage as a function of total bases aligned in targeted exome region (62 Mb) for all 18 technical replicates, and aggregate data for 6 individuals derived by merging 3 technical replicate captures per individual. c Percent targeted bases sequenced at ≥1x, ≥10x, and ≥20x thresholds as a function of total number of bases aligned in targeted exome region (62 Mb) for technical replicate and aggregate data for each individual. Black lines show the predicted local polynomial regression (loess) fit to data with default span value of 0.75, and red dashed lines represent predicted 95 % confidence interval along the predicted line