ArticleClinical pharmacology and therapeutics2016
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network.
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Article in Clinical pharmacology and therapeutics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 3 of them syntheses that pooled it.
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110citing papers in PubMed, 3 pooled it
31.5field-weighted citation impact, top 1% of its field
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Who cites it
110 citing papers in PubMed, 3 syntheses or guidelines pooled it, 186 citations in OpenAlex.
- Cost Effectiveness of Pharmacogenetic Testing for Drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines: A Systematic Review.Clinical pharmacology and therapeutics · 2022Pooled it
- Pharmacogenetic interventions to improve outcomes in patients with multimorbidity or prescribed polypharmacy: a systematic review.The pharmacogenomics journal · 2022Pooled it
- An Analysis of Pharmacogenomic-Guided Pathways and Their Effect on Medication Changes and Hospital Admissions: A Systematic Review and Meta-Analysis.Frontiers in genetics · 2021Pooled it
- The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.European journal of human genetics : EJHG · 2026Article
- Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.Pharmaceuticals (Basel, Switzerland) · 2026Article
- The evolving landscape of pharmacogenomics: Current achievements and future directions.Pharmacological reviews · 2026Review
- Evaluating genotype-treatment interactions for high-risk medications in British general practice: a retrospective cohort study using UK Biobank.The British journal of general practice : the journal of the Royal College of General Practitioners · 2026Article
- Use of medications with pharmacogenomic guidelines and adverse outcomes in hospitalised older patients: a retrospective cross-sectional study.The pharmacogenomics journal · 2026Article
- Prevalence of actionable pharmacogenomic variants in Brazilian patients with cancer.Frontiers in pharmacology · 2026Article
- Transforming Pharmacovigilance With Pharmacogenomics: Toward Personalized Risk Management.Clinical pharmacology and therapeutics · 2025Review
- Pharmacogenomic Drug-Gene Interactions in Geriatric Emergency Department Patients Who Sustained Falls: A Pilot Study.The western journal of emergency medicine · 2025Article
- Systematic method for classifying multiple congenital anomaly cases in electronic health records.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.Nature communications · 2025Article
- The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.Innovation (Cambridge (Mass.)) · 2025Article
- Implementation of pre-emptive testing of a pharmacogenomic panel in clinical practice: Where do we stand?British journal of clinical pharmacology · 2025Review
- Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review.Pharmacogenomics and personalized medicine · 2025Review
- Pharmacogenetics: Opportunities for theAnnual review of pharmacology and toxicology · 2025Review
- Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.Clinical pharmacology and therapeutics · 2025Article
- Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.medRxiv : the preprint server for health sciences · 2024Article
- Rare variants in pharmacogenes influence clozapine metabolism in individuals with schizophrenia.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2024Article
50 more citing papers are in PubMed but not listed here.
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Authors and funding
51 authors at 20 institutions in 2 countries.
W S BushCase Western Reserve University, Cleveland, Ohio, USA.
D R CrosslinUniversity of Washington, Seattle, Washington, USA.
A Owusu-ObengCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
J WallacePennsylvania State University, University Park, Pennsylvania, USA.
B AlmogueraChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
M A BasfordVanderbilt University School of Medicine, Nashville, Tennessee, USA.
S J BielinskiMayo Clinic, Rochester, Minnesota, USA.
D S CarrellGroup Health Research Institute, Seattle, Washington, USA.
J J ConnollyChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
D CrawfordCase Western Reserve University, Cleveland, Ohio, USA.
K F DohenyJohns Hopkins University School of Medicine, Baltimore, Maryland, USA.
C J GallegoUniversity of Washington, Seattle, Washington, USA.
A S GordonUniversity of Washington, Seattle, Washington, USA.
B KeatingChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
J KirbyVanderbilt University School of Medicine, Nashville, Tennessee, USA.
T KitchnerMarshfield Clinic, Marshfield, Wisconsin, USA.
S ManziBoston Children's Hospital, Boston, Massachusetts, USA.
A R MejiaCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
V PanNorthwestern University Feinberg School of Medicine, Evanston, Illinois, USA.
C L PerryBoston Children's Hospital, Boston, Massachusetts, USA.
J F PetersonVanderbilt University School of Medicine, Nashville, Tennessee, USA.
C A ProwsChildren's Hospital Medical Center, Cincinnati, Ohio, USA.
J RalstonGroup Health Research Institute, Seattle, Washington, USA.
S A ScottCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
A ScrolGroup Health Research Institute, Seattle, Washington, USA.
M SmithNorthwestern University Feinberg School of Medicine, Evanston, Illinois, USA.
S C StallingsVanderbilt University School of Medicine, Nashville, Tennessee, USA.
T VeldhuizenMayo Clinic, Rochester, Minnesota, USA.
W WolfBoston Children's Hospital, Boston, Massachusetts, USA.
S VolpiNational Human Genome Research Institute, Bethesda, Maryland, USA.
K WileyNational Human Genome Research Institute, Bethesda, Maryland, USA.
R LiNational Human Genome Research Institute, Bethesda, Maryland, USA.
T ManolioNational Human Genome Research Institute, Bethesda, Maryland, USA.
E BottingerCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
M H BrilliantMarshfield Clinic, Marshfield, Wisconsin, USA.
D CareyGeisinger Health System, Danville, Pennsylvania, USA.
R L ChisholmNorthwestern University Feinberg School of Medicine, Evanston, Illinois, USA.
C G ChuteJohns Hopkins University School of Medicine, Baltimore, Maryland, USA.
J L HainesCase Western Reserve University, Cleveland, Ohio, USA.
H HakonarsonChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
J B HarleyUniversity of Cincinnati, US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
I A HolmDepartment of Pediatrics, Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston, Massachusetts, USA.
I J KulloMayo Clinic, Rochester, Minnesota, USA.
G P JarvikUniversity of Washington, Seattle, Washington, USA.
E B LarsonGroup Health Research Institute, Seattle, Washington, USA.
C A McCartyMarshfield Clinic, Marshfield, Wisconsin, USA.
M S WilliamsGeisinger Health System, Danville, Pennsylvania, USA.
J C DennyVanderbilt University School of Medicine, Nashville, Tennessee, USA.
L J Rasmussen-TorvikNorthwestern University Feinberg School of Medicine, Evanston, Illinois, USA.
D M RodenVanderbilt University School of Medicine, Nashville, Tennessee, USA.
M D RitchieGeisinger Health System, Danville, Pennsylvania, USA.
Vanderbilt University · USChildren's Hospital of Philadelphia · USKaiser Permanente Washington Health Research Institute · USNational Human Genome Research Institute · USNorthwestern University · USUniversity of Washington · USCase Western Reserve University · USGeisinger Health System · USMarshfield Clinic · USMayo Clinic · USBoston Children's Museum · USChild Health and Development Institute · USIcahn School of Medicine at Mount Sinai · USBoston Children's Hospital · USCincinnati Children's Hospital Medical Center · USCincinnati VA Medical Center · USDana-Farber/Boston Children's Cancer and Blood Disorders Center · USJohns Hopkins Medicine · USJohns Hopkins University · USPennsylvania State University · US
Funding
Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MInstitutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MPharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MPharmacogenetics of Phase II Drug Metabolizing EnzymesU19GM061388 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 2010 to 2014
$15.8MPHARMACOGENETICS OF PHASE II DRUG METABOLIZING ENZYMESU01GM061388 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 2000 to 2009
$15.7MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MRochester Epidemiology ProjectR01AG034676 · NIA · MAYO CLINIC ROCHESTER · PI ROCCA, WALTER A, ST SAUVER, JENNIFER LYNN · 2010 to 2019
$9.5MINHERITED VARIATIONS IN DRUG-METABOLIZING ENZYMESR01GM028157 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 1985 to 2019
$6.9MMedical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9MeMERGE Coordinating Center - Administrative SupplementU01HG006385 · NHGRI · VANDERBILT UNIVERSITY · PI HARRIS, PAUL A. · 2011 to 2014
$5.4MNCATS NIH HHS UL1 TR000427NCATS NIH HHS UL1 TR001422NCI NIH HHS R01 CA138461NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG005137NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG006385NHGRI NIH HHS U01 HG006388NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U01 HG006828NHGRI NIH HHS U01 HG006830NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008666NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008684NHLBI NIH HHS U19 HL065962NIA NIH HHS R01 AG034676NIGMS NIH HHS R01 GM028157NIGMS NIH HHS T32 GM007454NIGMS NIH HHS U01 GM061388NIGMS NIH HHS U19 GM061388
Abstract
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants affect drug response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research Network, began eMERGE-PGx, a targeted sequencing study to assess genetic variation in 82 pharmacogenes critical for implementation of "precision medicine." The February 2015 eMERGE-PGx data release includes sequence-derived data from ∼5,000 clinical subjects. We present the variant frequency spectrum categorized by variant type, ancestry, and predicted function. We found 95.12% of genes have variants with a scaled Combined Annotation-Dependent Depletion score above 20, and 96.19% of all samples had one or more Clinical Pharmacogenetics Implementation Consortium Level A actionable variants. These data highlight the distribution and scope of genetic variation in relevant pharmacogenes, identifying challenges associated with implementing clinical sequencing for drug treatment at a broader level, underscoring the importance for multifaceted research in the execution of precision medicine.
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Databases, GeneticGenetic VariationGenomicsPharmacogeneticsAgedElectronic Health RecordsFemaleHumansMaleMiddle AgedPrecision Medicine
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