Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data

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SUMMARY

State-of-the-art high throughput sequencing approaches result in a large amount of data, 1 making it necessary to develop more powerful PGx-bioinformatics tools as well as assess the clinical validity and utility of sequencing-based tests. Multiple tools have been developed and tested in NGS-based PGx studies. PGx analysis with multiple dedicated bioinformatics tools For analysis of variants in known and well-established PGx genes the authors used four PGx-dedicated tools: Stargazer (V.1.0.8), Aldy (V.3.3), PharmCAT (V.0.8.0), and PharmaKU which uses . . .

 



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