ArticleThe Journal of molecular diagnostics : JMD2017
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.
Article in The Journal of molecular diagnostics : JMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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
15 citing papers in PubMed.
- A Pilot Study ofDiagnostics (Basel, Switzerland) · 2026Article
- Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for Routine Clinical Practice.Clinical and translational science · 2026Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide.Human genetics · 2022Review
- A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants.JMA journal · 2022Article
- Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People.Molecular biology and evolution · 2021Article
- Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.HGG advances · 2021Review
- Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.Clinical and translational science · 2021Article
- Applying Next-Generation Sequencing Platforms for Pharmacogenomic Testing in Clinical Practice.Frontiers in pharmacology · 2021Review
- Technologies for Pharmacogenomics: A Review.Genes · 2020Review
- Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.Journal of personalized medicine · 2019Review
- The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics.Cold Spring Harbor perspectives in medicine · 2019Review
- Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.Pharmacogenomics · 2019Article
- Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.Scientific reports · 2018Article
- Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai.Pharmacogenomics · 2017Review
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
There has been extensive debate about both the necessity of orthogonal confirmation of next-generation sequencing (NGS) results in Clinical Laboratory Improvement Amendments-approved laboratories and return of research NGS results to participants enrolled in research studies. In eMERGE-PGx, subjects underwent research NGS using PGRNseq and orthogonal targeted genotyping in clinical laboratories, which prompted a comparison of genotyping results between platforms. Concordance (percentage agreement) was reported for 4077 samples tested across nine combinations of research and clinical laboratories. Retesting was possible on a subset of 1792 samples, and local laboratory directors determined sources of genotype discrepancy. Research NGS and orthogonal clinical genotyping had an overall per sample concordance rate of 0.972 and per variant concordance rate of 0.997. Genotype discrepancies attributed to research NGS were because of sample switching (preanalytical errors), whereas the majority of genotype discrepancies (92.3%) attributed to clinical genotyping were because of allele dropout as a result of rare variants interfering with primer hybridization (analytical errors). These results highlight the analytical quality of clinically significant pharmacogenetic variants derived from NGS and reveal important areas for research and clinical laboratories to address with quality management programs.
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Registered trials
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