期刊
PHARMACOGENOMICS
卷 16, 期 15, 页码 1713-1721出版社
FUTURE MEDICINE LTD
DOI: 10.2217/pgs.15.108
关键词
errors; genetic diversity; genetic testing; medical nomenclature; pharmacogenomics
资金
- Austrian Science Fund (FWF) [P 25608-N15]
- NIH/NIGMS [U19 GM61388]
- NIH/NIGMS (Pharmacogenomics Research Network)
- Austrian Science Fund (FWF) [P 25608] Funding Source: researchfish
- Austrian Science Fund (FWF) [P25608] Funding Source: Austrian Science Fund (FWF)
Aim: Many currently available pharmacogenomic assays and algorithms interrogate a set of tag' polymorphisms for inferring haplotypes. We wanted to test the accuracy of such haplotype inferences across different populations. Materials & methods: We simulated haplotype inferences made by existing pharmacogenomic assays for seven important pharmacogenes based on full genome data of 2504 persons in the 1000 Genomes dataset. Results: A sizable fraction of samples did not match any of the haplotypes in the star allele nomenclature systems. We found no clear population bias in the accuracy of results of simulated assays. Conclusion: Haplotype nomenclatures and inference algorithms need to be improved to adequately capture pharmacogenomic diversity in human populations.
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