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Genetic variation in human drug-related genes.


ABSTRACT: BACKGROUND:Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied. METHODS:Based on 60,706 human exomes from the ExAC dataset, we performed an in-depth computational analysis of the prevalence of functional variants in 806 drug-related genes, including 628 known drug targets. We further computed the likelihood of 1236 FDA-approved drugs to be affected by functional variants in their targets in the whole ExAC population as well as different geographic sub-populations. RESULTS:We find that most genetic variants in drug-related genes are very rare (f?

SUBMITTER: Scharfe CPI 

PROVIDER: S-EPMC5740940 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Genetic variation in human drug-related genes.

Schärfe Charlotta Pauline Irmgard CPI   Tremmel Roman R   Schwab Matthias M   Kohlbacher Oliver O   Marks Debora Susan DS  

Genome medicine 20171222 1


<h4>Background</h4>Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied.<h4>Methods</h4>Based on 60,706 human exomes from the ExAC dataset, we performed an in-depth computational analysis of the prevalence of functional variants in 806 drug-related genes, including 628 known drug targets. We furt  ...[more]

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