Fig. 2

Example of MySeq VCF loading, variant query and PGx interfaces. a The user can load data is several ways, including pre-configured publicly available genomes. b Having loaded NA12878’s genome, the user’s query of chr7:141672604 returned one overlapping variant 7:g.141672604 T > C for which NA12878 is heterozygous. The user clicked on the variant to obtain functional and other annotations from MyVariant.info [37]. (c) Via the “Analyses” dropdown in the header bar (shown fully expanded in the larger screenshot), the user can launch other analyses, e.g. extract variants associated with Warfarin dosing