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Next generation sequencing ([[NGS]]) leads to the discovery of many new genetic variants, as outlined by [https://www.researchgate.net/profile/Volker_Lauschke2 Volker Lauschke] ''et al.'' in [https://doi.org/10.2217/pgs-2016-0023 Requirements for comprehensive pharmacogenetic genotyping platforms]. A challenge is how to evaluate the functional consequences of these mutations. A discussion of this is given by [https://www.researchgate.net/profile/Magnus_Ingelman-Sundberg Ingelman-Sundberg] ''et al.'' in the article [https://doi.org/10.1186/s40246-018-0157-3 Integrating rare genetic variants into pharmacogenetic drug response predictions]. A potenitally very interesting reference in that work (currently in reviview), is called ''An optimized prediction framework to assess the functional impact of pharmacogenetic variants'', by [https://www.researchgate.net/scientific-contributions/2125612086_Yitian_Zhou Yitian Zhou] at the Department of Physiology and Pharmacology at Karolinska Institutet.
A challenge is how to evaluate the functional consequences of these mutations. A discussion of this is given by [https://www.researchgate.net/profile/Magnus_Ingelman-Sundberg Ingelman-Sundberg] ''et al.'' in the article [https://doi.org/10.1186/s40246-018-0157-3 Integrating rare genetic variants into pharmacogenetic drug response predictions]. Another article by the same authors is [https://doi.org/10.1016/j.ejps.2019.01.024 Prediction of drug response and adverse drug reactions: From twin studies to Next Generation Sequencing]
===Computational methods===
A review of computational methods for PGx interpretation of NGS data has been written by [https://doi.org/10.3389/fphar.2018.01437 Yitian Zhou]. Zhou ''et al.'' also proposes a tool that combines several such methods, [https://www.nature.com/articles/s41397-018-0044-2 An optimized prediction framework to assess the functional impact of pharmacogenetic variants].
===Experimental methods===
Ingelman-Sundberg ''et al.'' also propose a high-throughput ''in vitro'' method for gene function evaluation in [https://doi.org/10.2217/pgs-2018-0096 Human liver spheroids in chemically defined conditions for studies of gene–drug, drug–drug and disease–drug interactions]. This idea is the basis of the company [http://www.hepapredict.com/technology HepaPredict AB].