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Fig. 4 | Genome Medicine

Fig. 4

From: A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Fig. 4

Comparison of the number and rate of true positive variant calls with GSNAP/GATK-VQSR and DRAGEN. The three samples and reference datasets are as in Tables 1 and 2. Numbers are variant calls. TP: Variants in the NA12878 CDC/GeT-RM clinical validation set in which true positive variant calls were made. %TP variants in the larger NIST/GIAB reference set were similar to those in the GeT-RM set (NA12878-essex, DRAGEN only 92.3 % of 143,385 TP, GATK only 19.8 % of 96,003 TP; NA12878-Gill, DRAGEN only 98.0 % of 1,335,504 TP, GATK only 91.8 % of 58,571 TP)

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