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Gene function

887 bytes added, 12:28, 27 February 2019
Description of problem
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]
 
===Description of problem===
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>.
 
[[File:gene_outline.png|thumb|The effect of a mutation depends on the region where it is found. ]]
 
Disease causing mutations are often shared by a very small number of people due to evolutionary pressure. For genes involved in drug transport and metabolization, the evolutionary pressure is much weaker, and therefore the variants may be common.
 
An additional difficulty with determining genetic effect is for larger structural variants caused by copy number variations, pseudogenes or repeated regions. A good example of this is CYP2D6.
 
[[File:cyp2d6_outline.png|thumb|The effect of variants is also influenced by pseudogenes and repeated regions, as shown here for CYP2D6]]
===Computational methods===