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. 2019 Jul 19;8:1135. [Version 1] doi: 10.12688/f1000research.19140.1

Figure 2. Overview of the Variants Discovery pipeline to report possible pathogenic variants associated with Mendelian diseases.

Figure 2.

Abbreviations: dbNSFP, database for nonsynonymous SNPs’ functional predictions; WGSA, whole genome sequencing annotator; HGMD, Human gene mutation database; eQTL, expression quantitative trait loci.