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]

The effects of mutations depend on the region in which they are encountered<ref>A good description is given by [https://doi.org/10.3389/fphar.2018.01437 Zouh ''et al.'']</ref>.