Table 1 Description of current MySeq functionality

Query

Query for variants by genomic position, rsID and gene name. Obtain comprehensive annotations, e.g. amino acid translation, allele frequency, etc., for each variant from MyVariant.info [37].

Physical Traits

Predict phenotypes for physical traits, e.g. taste PTC as bitter, based on the genotypes of one or more associated variants.

Pharmacogenomics (PGx)

Report genotypes and associated phenotypes based on CPIC guidelines and/or the drug label for Simvastatin and Warfarin.

Polygenic Disease Risk

Predict polygenic disease risk for Type 2 Diabetes using a likelihood ratio-based approach [41], and report the APOE ε4 genotype and associated risk data for Alzheimer Disease.

Ancestry

Scatter plot visualization of the top two principal components using loadings for 496 ancestry informative markers (AIM) [42] computed with the POPRES resource [43].