High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA
Fig 3
Comparison of sample types from variant calls—concordance rates.
The concordance rates were calculated by pairwise comparison of variant calls before (upper panels) and after filtering (lower panels). The sample types compared were DBS_2x3.2 vs WB_ref in Pilot 1 (A and B), DBS_2x3.2 vs WB_ref and WB_ref vs WB_ref replica in Pilot 2 (C and D) and DBS_2x1.6 vs WB_ref, DBS_2x3.2 vs WB_ref, DBS_2x3.2 vs DBS_2x1.6 and WB_ref vs WB_WGA_ref in Pilot 3 (E and F). The rates have been presented per variant type: SNP, insertion, deletion and multiallelic calls, and comprise the averages of all comparisons made for a given sample pair, corresponding to the number of subjects in the pilot, i.e. Pilot 1 = 7, Pilot 2 = 8 and Pilot 3 = 7. Note that for comparisons using the DBS_2x1.6 sample type (see the fig), each individual replica was firstly compared to the WB_ref or DBS_2x3.2 sample types followed by the calculation of average values hereof, which were used in the figure.