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Gene function

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Created page with "Next generation sequencing (NGS) leads to the discovery of many new genetic variants. A challenge is how to evaluate the functional consequences of these mutations. A disc..."
Next generation sequencing ([[NGS]]) leads to the discovery of many new genetic variants. 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] in [https://www.researchgate.net/profile/Volker_Lauschke2 Volker Lauschke]'s group at the Department of Physiology and Pharmacology at Karolinska Institutet.

The same authors 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].