Fig. 3

Evaluation of exome seqeuncing protocol. (a) Scatter plots of variant allele frequencies of SNV calls (depth ≥ 20) from current study (Twist) and those from previous study (Agilent) in nine pediatric brain caner samples with regression lines and Pearson’s correlation coefficients. (b) Number of validated and not-validated Agilent (previous study) SNV calls after four sequential filtering steps. (c) Number of validated and not-validated Twist (current study) SNV calls after four sequential filtering steps. (d) Comparison of genotype calls of NA12878 (depth ≥ 10) between current study (Twist) and public datasets from the Genome-in-a-Bottle (GIAB) consortium (HG001) and GSE206253. (e) Comparison of genotype calls of NA12878 (depth ≥ 10) after filtration of the calls of current study (Twist) using GATK CNNScoreVariants 1D and 2D model.