ArticlePersonalized medicine
Performance of exome sequencing for pharmacogenomics.
Article in Personalized medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed.
- Pharmacogenomic profiling of the South Korean population: Insights and implications for personalized medicine.Frontiers in pharmacology · 2024Article
- A systematic review and meta-analysis recite the efficacy of Tacrolimus treatment in renal transplant patients in association with genetic variants ofAmerican journal of clinical and experimental urology · 2023Review
- Effects of Pharmacogenomic Testing in Clinical Pain Management: Retrospective Study.JMIRx med · 2022Article
- Legal Challenges in Precision Medicine: What Duties Arising From Genetic and Genomic Testing Does a Physician Owe to Patients?Frontiers in medicine · 2021Article
- Technologies for Pharmacogenomics: A Review.Genes · 2020Review
- Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics.Clinical pharmacology and therapeutics · 2020Article
- Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine.Science China. Life sciences · 2019Review
- Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.Frontiers in pharmacology · 2019Article
- Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.NPJ genomic medicine · 2017Article
- Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision Medicine.Pharmaceutics · 2016Review
- Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.Frontiers in pharmacology · 2016Article
- CYP2D6 polymorphisms and their influence on risperidone treatment.Pharmacogenomics and personalized medicine · 2016Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
aimWe present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants. MATERIALS &
methodsDepth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.
resultsApproximately 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.
conclusionWhile 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.