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Fig. 3 | BMC Bioinformatics

Fig. 3

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

Fig. 3

VarGenius database schema: analyzes and samples information is managed at three different levels using the analyzes, samples and readfiles tables. They are also used to keep track of the steps executed. The variants table contains the information about the variants and their allelic frequencies. The statistics table contains the information about the variant for each analysis (quality score, depth, etc). The genotypes table contains the genotype information obtained with GATK HaplotypeCaller while the annotation table contains more specific information about the variants calling (gene, transcript, exon, nucleotide and aminoacidic substitutions). The last three tables (transcripts, genes and phenotypes) contain the information to build the gene annotation

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BMC Bioinformatics

ISSN: 1471-2105

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