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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes

View ORCID ProfileJihoon Choi, Kelan Tantisira, Qingling Duan
doi: https://doi.org/10.1101/368225
Jihoon Choi
Queen's University;
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Kelan Tantisira
Brigham and Women's Hospital & Harvard Medical School
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Qingling Duan
Queen's University;
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  • For correspondence: qingling.duan@queensu.ca
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Abstract

More than 1,100 genetic loci have been correlated with drug response outcomes but disproportionately few have been translated into clinical practice. One explanation for the low rate of clinical implementation is that the majority of associated variants may be in linkage disequilibrium (LD) with the causal variants, which are often elusive. This study aims to identify and characterize likely causal variants within well-established pharmacogenomic genes using next-generation sequencing data from the 1000 Genomes Project. We identified 69,319 genetic variations within 160 pharmacogenomic genes, of which 8,207 variants are in strong LD (r2 > 0.8) with known pharmacogenomic variants. Of the latter, 8 are coding or structural variants predicted to have high-impact, with 19 additional missense variants that are predicted to have moderate-impact. In conclusion, we identified putatively functional variants within known pharmacogenomics loci that could account for the association signals and represent the missing causative variants underlying drug response phenotypes.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted July 13, 2018.
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes
Jihoon Choi, Kelan Tantisira, Qingling Duan
bioRxiv 368225; doi: https://doi.org/10.1101/368225
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes
Jihoon Choi, Kelan Tantisira, Qingling Duan
bioRxiv 368225; doi: https://doi.org/10.1101/368225

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