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Table 2 Results obtained using the Genome in a bottle exome sample. The column on the right shows the percentages out of the total of variants detected with the two methods

From: VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

Sites Unique to VarGenius

3224 (5.4%)

Sites Unique to GIAB

1482 (2.6%)

Common Sites in VarGenius

56,164 (94.6%)

Common Sites in GIAB

56,164 (97.4%)

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BMC Bioinformatics

ISSN: 1471-2105

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