Performance of exome sequencing for pharmacogenomics.
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ABSTRACT:
SUBMITTER: Londin ER
PROVIDER: S-EPMC4526024 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
Performance of exome sequencing for pharmacogenomics.
Londin Eric R ER Clark Peter P Sponziello Marialuisa M Kricka Larry J LJ Fortina Paolo P Park Jason Y JY
Personalized medicine 20140101 2
<h4>Aim</h4>We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants.<h4>Materials & methods</h4>Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.<h4>Results</h4>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 s ...[more]
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