Literature DB >> 26257813

Performance of exome sequencing for pharmacogenomics.

Eric R Londin1, Peter Clark2, Marialuisa Sponziello3, Larry J Kricka4, Paolo Fortina5, Jason Y Park6.   

Abstract

AIM: We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants. MATERIALS &
METHODS: Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.
RESULTS: Approximately 14% of the 1928 variant locations examined had inadequate depth of coverage (<20x). The variants with inadequate coverage were predominantly located outside of protein-coding portions and included some clinically relevant variant positions, such as the warfarin VKORC1 variant.
CONCLUSION: While the use of exome sequencing is becoming more prevalent in fundamental research, clinical trials and clinical use; there is a possibility of false-negative results. The possible quality issues such as false-negative rate should be considered with the use of exome sequencing.

Entities:  

Keywords:  exome sequencing; pharmacogenomics; warfarin

Year:  2014        PMID： 26257813      PMCID： PMC4526024          DOI： 10.2217/PME.14.77

Source DB:  PubMed          Journal:  Per Med        ISSN： 1741-0541            Impact factor:   2.512


  21 in total

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