Title |
In silico comparative characterization of pharmacogenomic missense variants
|
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Published in |
BMC Genomics, May 2014
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DOI | 10.1186/1471-2164-15-s4-s4 |
Pubmed ID | |
Authors |
Biao Li, Chet Seligman, Janita Thusberg, Jackson L Miller, Jim Auer, Michelle Whirl-Carrillo, Emidio Capriotti, Teri E Klein, Sean D Mooney |
Abstract |
Missense pharmacogenomic (PGx) variants refer to amino acid substitutions that potentially affect the pharmacokinetic (PK) or pharmacodynamic (PD) response to drug therapies. The PGx variants, as compared to disease-associated variants, have not been investigated as deeply. The ability to computationally predict future PGx variants is desirable; however, it is not clear what data sets should be used or what features are beneficial to this end. Hence we carried out a comparative characterization of PGx variants with annotated neutral and disease variants from UniProt, to test the predictive power of sequence conservation and structural information in discriminating these three groups. |
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