Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Figure 3

Workflow for pharmacogenomics using WES or WGS. After mapping to the reference sequence and variant calling, variants need to be filtered. Besides the known functional variants and the normal variations, it can be expected that a considerable number of novel variants in genes involved in drug metabolism will be found. For these, additional functional assays will have to be performed to confirm whether they have functional relevance or not.