World class research today, superior patient care tomorrow

World class research today, superior patient care tomorrow

Academic excellence

As recognized leaders in pharmacogenomics (PGx), Dr. Broeckel and the RPRD research team are known for their scientific rigor and academic excellence. We partner with the world’s leading medical institutions to advance PGx research and practice.

View our academic publications and scientific contributions listed below that highlight our academic excellence and commitments in scientific and clinical research.

Dr Broeckel Pharmacogenomics Researcher

Selected Publications:

Turner, A. et all. Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing [epub ahead].

Turner, A. et all. Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing. 2023 June [epub ahead].

Wang, W. et all. Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations. Journal of Personalized Medicine. 2022 September [epub ahead].

Pratt, V. et all. Characterization of Reference Materials for TPMT and NUDT15 – A GeT-RM Collaborative Project. The Journal of Molecular Diagnostics. 2022 August [epub ahead].

Morris, S. et all. Incorporating G6PD Genotyping to Identify Patients with G6PD Deficiency. 2022 April [epub ahead].

Pratt, V. et al. Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status – A GeT-RM Collaborative Project. The Journal of Molecular Diagnostics. 2021 May [ePub ahead].

Turner, A. et al. Identification of CYP2D6 Haplotypes that interfere with commonly used assays for Copy Number Variation characterization. The Journal of Molecular Diagnostics. 2021 Feb [ePub ahead]

Assem, M, et al. Assessing Learners’ Attitudes Towards Pharmacogenomics Using Their Own Pharmacogenomics Testing Results. American Journal of Pharmaceutical Education.  2021, 85 (4) 8249

Charity, N, et al. PharmVar GeneReview: CYP2D6. Clin Pharmacol Ther. 2020. 107 (1) 154

Fuentes L, et al. Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. Mol Psychiatry.2020 May 5 PubMed PMID: 32372009.

Hoshitsuki K, et al. Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. Genet Med. 2020 Jan; 22(1) :232-233 Jul 25. PubMed PMID: 31341243.

Kachroo P, et al. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. National Heart, Lung, and Blood Institute Trans-Omics for  Precision Medicine (TOPMed) Consortium.Chest. 2019 Dec;156(6):1068-1079. PMID: 31557467

Kessler MD, et al  De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569.PubMed PMID: 31964835; PubMed Central PMCID: PMC7007577.

Ni, X, et al. Detecting fitness epistasis in recently admixed populations with genome-wide data. BMC Genomics.2020 Jul 11;21(1):476. PubMed PMID: 32652930; PubMed Central PMCID: PMC7353720.

Zekavat SM, et al  Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun.2020 Apr 1;11(1):1715.PubMed PMID: 32238811; PubMed Central PMCID: PMC7113276.

Bentley, AR, et al. Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. Nat Genet. 2019 Apr;5 PubMed PMID: 30926973.

Bhatt DK, et al. Age- and Genotype-Dependent Variability in the Protein Abundance and Activity of Six Major Uridine Diphosphate-Glucuronosyltransferases in Human Liver. Clin Pharmacol Ther. 2019 Jan;105(1):131-41.

Fuentes L, et al Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry. Pharmacogenomics J. 2020 Jun;20(3):482-493. PubMed PMID: 31806883

Gaedigk, A, et al. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project. The Journal of Molecular Diagnostics. 2019. 21 (6): P1034.

Robinson KM, et al. Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies. Pharmacogenomics J. 2019 Jun;19(3):305-314. PubMed PMID: 30206300; PubMed Central PMCID: PMC6414283.

Sung, Y J, et al. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. Hum Mol Genet. 2019 Apr 10 PubMed PMID: 31127295; PubMed Central PMCID: PMC6644157.

Yang JJ, et al. Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther. 2019 May;105(5):1091-1094.

Zekavat SM, et al. Multi-ancestry genome-wide association study of lipid levels incorporating gene-alcohol interactions. Am J Epidemiol. 2019 Jan 29. PubMed PMID: 30698716.

Bhatt DK, et al. Hepatic abundance and activity of androgen and drug metabolizing enzyme, UGT2B17, are associated with genotype, age, and sex. drug metab dispos. 2018. 46(6):888-896. PubMed PMID: 29602798.

Feitosa MF1, et al. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018. 18;13(6)0198166. PubMed PMID: 29912962; PubMed Central PMCID: PMC6005576.

Reeme AE, Claeys TA, Aggarwal P, Turner AJ, Routes JM, Broeckel U, Robinson RT. Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator. Genes Immun. 2019. 20(3):181-197 PubMed PMID: 29599514.

Sung YJ, et al, A large-cale multi-ancestry genome-wide study accounting for smoking behavior identifies multiple significant loci for blood pressure. Am J Hum Genet. 2018.102(3):375-400. PubMed PMID: 29455858.

Do A, et al. Whole exome analyses to examine the impact of rare variants on left ventricular traits in African American participants from the HyperGEN and GENOA studies. 2017;3(1). PMID: 29503979

Maloney JP, et al. The ENTPD1 promoter polymorphism -860 A > G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk FASEB J. 2017 Jul;31(7):2771-2784. PMID: 28302652.

Pasternak AL, et al. Haidar CE. The impact of the UGT1A1*60 allele on bilirubin serum concentrations. Pharmacogenomics. 2017 18(1):5-16 PMID: 27967321

Wang H, et al. Genome-wide survey in African Americans demonstrates potential epistasis of fitness in the human genome. Genet Epidemiol. 2017 41(2):122-135. PubMed PMID: 27917522 PMCID: PMC5226866

Wild PS, et al. Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. J Clin Invest. 2017 May 1;127(5):1798-1812. PubMed PMID: 28394258; PubMed Central PMCID: PMC5409098.

Xu M, et al. Genetic and nongenetic factors associated with protein abundance of flavin-containing monooxygenase 3 in human liver. J Pharmacol Exp Ther. 2017 Nov;363(2):265-274.  PubMed PMID: 28819071.  PMCID: PMC5697103.

Gammal RS, et al. Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease. Pediatrics. 2016 138(1):e20153479 PMID: 27335380 PMCID: PMC4925073.

Kullo IJ, et al. Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial). Circulation. 2016 Mar 22;133(12):1181-8. PMID: 26915630 PMCID: PMCID4803581

Peterson JF, et al. Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. Am J Med Genet A. 2016 Dec PMID: 27549580

Pratt VM, et al. Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. J Mol Diagn. 2016 Jan;18(1):109-23.

Yang W, et al. Comparison of genome sequencing and clinical genotyping for pharmacogenes. Clin Pharmacol Ther. 2016 100(4):380-8 PMID: 27311679.

Dunnenberger HM, et al. Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers. Annu Rev Pharmacol Toxicol. 2015 Jan 6;55:89-106. PMID: 25292429 PMCID: PMC4607278

Giampietro PF, et al. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A. 2015 Jan;167(1):95-102. PMID: 25348728

Joshi PK, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 2015 Jul 23;523(7561):459-62. PMID: 26131930 PMCID: PMC451614

Li W, et al. Comprehensive evaluation of AmpliSeq transcriptome, a novel targeted whole transcriptome RNA sequencing methodology for global gene expression analysis. BMC Genomics. 2015 Dec 16;16:1069.

Pratt VM, et al. Characterization of 137 Genomic DNA Reference Materials for 38 Pharmacogenetic Genes: A GeT-RM Collaborative Project. J Mol Diagn. 2015 Nov 24 PMID: 26621101 PMCID: 4695224

Rehm HL, et al. Collaborators (212) ClinGen–the Clinical Genome Resource. N Engl J Med. 2015 Jun 4;372(23):2235-42.

Tran NT, et al. PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies. Front Genet. 2015 Apr 8;6:136. PMID: 25904937 PMCID: PMC4389541

Turner AJ, et al. The Introduction of RNA-DNA Differences Underlies Interindividual Variation in the Human IL12RB1 mRNA Repertoire. Proc Natl Acad Sci USA 2015. 112(50):15414-9 PMID: 26621740

Zhu X, et al. Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension. Am J Hum Genet. 2015 Jan 8;96(1):21-36.

Aggarwal P, et al. RNA expression profiling of human iPSC-derived cardiomyocytes in a cardiac hypertrophy model. PLoS One. 2014 Sep 25;9(9)eCollection 2014. PMID: 25255322 PMCID: PMC4177883

Bell GC, et al.  Development and use of active clinical decision support for preemptive pharmacogenomics. J Am Med Inform Assoc. 2014 Feb;21(e1):e93-9. PMID: 23978487 PMCID: PMC3957400

Hicks JK, et al. Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes. Pharmacogenomics. 2014 Jun;15(8):1065-78

Hoffman JM, et al. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):45-55. PMID: 24619595  PMCID: PMC4056586

Liu CT, et al. African Ancestry Anthropometry Genetics Consortium; GIANT Consortium, Borecki IB, Fox CS, Mohlke KL, North KE, Adrienne Cupples L. Multi-ethnic fine-mapping of 14 central adiposity loci.Hum Mol Genet. 2014 Sep 1;23(17):4738-44. PMID: 24160767 PMCID: PMC4119415

Miller AW, et al. Development of reusable logic for determination of statin exposure-time from electronic health records. J. Biomed Inform. 2014 Jun;49:206-12. PMID: 24637142 PMCID: PMC4327888

Thompson P, et al. Pharmacokinetics and pharmacogenomics of daunorubicin in children: a report from the Children’s Oncology Group. Cancer Chemother Pharmacol. 2014 Oct;74(4):831-8. PMID: 25119182 PMCID: PMC4282931

Wang YJ, et al.  The association of the vanin-1 N131S variant with blood pressure is mediated by endoplasmic reticulum-associated degradation and loss of function. PLoS Genet. 2014 Sep 18;10(9):e1004641. PMID: 25233454 PMCID: 4169380

Franceschini N, et al. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet. 2013 Sep 5;93(3):545-54.  PMID: 239723712 PCID: PMC3769920

Giampietro PF, et al. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol. 2013 Feb;4(1-2):94-105. PMID: 23653580 PMCID: PMC3638777

Lazar J, et al. SORCS1 Contributes to the Development of Renal Disease in Rats and Humans. Physiol Genomics. 2013 Aug;(16):720-8. PMID: 23780848 PMCID: PMC3742914

Liu CT, et al.  Genome-wide association of body fat distribution in African ancestry populations suggests new loci. PLoS Genet. 2013;9(8):e1003681. Aug 15. PMID: 23966867 PMCID: PMC3744443

Monda KL, et al. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun;45(6):690-6. PMID: 23583978 PMCID: PMC3694490

Schilter K, et al. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet. 2013 Nov;84(5):473-81. PMID: 23701296 PMCID: PMC3985344

Shuldiner AR, et al. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. Clin Pharmacol Ther. 2013 Aug;94(2):207-10. PMID:23588301 PMCID: PMC3720847

Siegel DH, et al.  Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar;133(3):677-84. PMID: 23096700 PMCID: PMC3971866

Zhang Y, et al QTL-based association analyses reveal novel genes influencing pleiotropy of metabolic syndrome (MetS). Obesity (Silver Spring). 2013 Oct;21(10):2099-111. PMID: 23418049 PMCID: PMC3769476

Zhang Y, et al.  A comprehensive analysis of adiponectin QTLs using SNP association, SNP cis-effects on peripheral blood gene expression and gene expression correlation identified novel metabolic syndrome (MetS) genes with potential role in carcinogenesis and systemic inflammation. BMC Med Genomics. 2013 Apr 29;6:14. PMID: 23628382 PMCID: PMC3643849

David SP, et al. Genome-wide meta-analyses of smoking behaviors in African Americans. Transl Psychiatry. 2012 May 22;2e119. PMID: 22832964 PMCID: PMC3365260

Fernandez CA, et al. Concordance of DMET plus genotyping results with those of orthogonal genotyping methods. Clin Pharmacol Ther. 2012 Sep;92(3):360-5. PMID: 22871999 PMCID: PMC3516299

Hicks JK, et al. A Clinician-Driven automated system for integration of pharmacogenetic interpretations into an electric medical record. Clin Pharmacol Ther. 2012 Nov;92(5):563-6. PMID: 22990750 PMCID: PMC3589522

Kraja AT, et al. Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice. Metabolism. 2012 Aug;61(8):1129-41. PMID: 22386932 PMCID: PMC3586585

Maloney JP, et al. Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension. Am J Physiol Lung Cell Mol Physiol. 2012 Mar 15;302(6):L541-54. PMID: 22198906 PMCID: 3311532

Mangino M, et al. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet. 2012 Dec 15;21(24):5385-94. PMID: 23001564 PMCID: PMC3510758

Reis LM, et al. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012 Dec;20(12):1224-33. PMID: 22569110  PMCID: PMC3499749

Sebro R, et al. Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet. 2012 Dec;82(6):546-51. PMID: 22035343 PMCID: PMC4279028

Sung YJ, et al. Genotype imputation for African Americans using data from HapMap phase II versus 1000 genomes projects. Genet Epidemiol. 2012 Jul;36(5):508-16. PMID: 22644746 PMCID PMC: 3703942

Tomita-Mitchell A, et al. Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics. 2012 May 1;44(9):518-41. PMID: 22318994 PMCID: PMC3426426

Zhao W, et al. Copy number variations associated With obesity-related traits in african americans: a joint analysis between GENOA and HyperGEN. obesity (Silver Spring). 2012 Dec;20(12):2431-7. PMID: 22836685 PMCID: PMC3484176

Zhi D,et al. Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy. Front Genet. 2012;3:92. PMID: 22654895PMCID: PMC3361011


Conference abstracts:

Performance Analysis of a Comprehensive Clinically Focused Pharmacogentic Assay

Presented at the Pharmacogenomics Research Network (PGRN) Meeting 2020

Aggarwal, P., Turner, A., Derezenski, A., Scharer, G., Broeckel, U.

Click here to download the poster


Pharmacogenomic Genotyping Performance Across Biological Specimens

Presented at the University of Minnesota Biennial Pharmacogenomics Conference 2020

Turner, A., Aggarwal, P., Scharer, G., Derezenski, A., Gaedigk, A., Broeckel, U.

Click here to download the poster

Characterization of CYP2D6 Structural Variants Containing the CYP2D6 *68 Hybrid

Turner, A, Nofziger, C, Boone, E, Scantamburlo, G, Vanoni, S, Haidar, C, Relling, M, Broeckel, U, Gaedigk, A.

Presented at the American Society of Human Genetics (ASHG) annual conference 2019  

Click here to download poster


Identification of Novel CYP2D6 Haplotypes that Interfere with TaqMan Copy Number Analysis

Turner A, Aggarwal, P, Boone E, Haidar, C, Relling, M, Broeckel, U, Gaedigk, A.

Presented at the Clinical Pharmacogenetics Implementation Consortium (CPIC) meeting 2019

Click here to download poster

The PharmacoScanTM Array: Performance Across Biological Specimens

Turner, A, Aggarwal, P, Lorier, R, Gaedigk, A, Broeckel, U

Presented at the Clinical Pharmacogenetics Implementation Consortium (CPIC) meeting 2019

Click here to download poster

TPMT and NUDT15 Genotyping for Comprehensive Detection of Thiopurine Sensitivity in Multi-Ethnic Populations

Turner, A, Aggarwal, P, Lorier, R, Scharer, G, Broeckel, U.

Presented at the Clinical Pharmacogenetics Implementation Consortium (CPIC) meeting 2019

Click here to download poster

Four Novel NUDT15 Haplotypes Relevant for Treatment of Acute Lymphoblastic Leukemia

Turner A, Aggarwal P, Scharer G, Broeckel U.

Presented at The American Society of Pediatric Hematology/Oncology (ASPHO) 2019.

Click here to download poster.

Identification of Novel CYP2D6 Haplotypes that Interfere with TaqMan Copy Number Analysis

Turner A, Aggarwal P, Boone EC, Haidar CE, Relling M., Broeckel U, Gaedig, A.

Presented at American Society of Human Genetics (ASHG) 2018. 

Click here to download poster.

Implementation of Affymetrix PharmacoScanTM for Comprehensive Preemptive Clinical Pharmacogenetic Testing

Turner A, Lorier R, Aggarwal, P Matter A, Broeckel U.

Presented at American Society of Human Genetics (ASHG) 2016. 

Click here to download poster.

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Our additional contributions to PGx development

Clinical Pharmacogenetics Implementation Consortium (CPIC):

Drs. Broeckel (CEO and founder) and Scharer (CMO) are both long-standing members of the CPIC® since its inception in 2009.  CPIC is a pioneering PGx consortium committed to facilitating the implementation of PGx testing in the clinic by providing actionable clinical guidelines to translate genetic tests results into customized patient-focused prescribing decisions by physicians for certain drugs. The detailed evidence-based, gene/drug clinical recommendations created by CPIC are peer-reviewed and are being increasingly used in the clinical practice. They are regarded as the standard guideline in PGx clinical implementation.

Read more about CPIC.


Amy Turner (Director of Research and Development) is a member of the Pharmacogene Variation (PharmVar) Consortium and serves as a gene expert for CYP2D6, NUDT15, and DPYD.

PharmVar was established in 2018 and funded by the Pharmacogenomics Research Network (PGRN) to serve as repository for PGx gene data and its nomenclature. PharmVar aims to facilitate and develop a standardized PGx gene nomenclature for the entire global PGx community.

Amy Turner’s contribution to the PharmVar NUDT15 gene introduction:

Yang JJ, et al. Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther. 2018 Dec 4. doi: 10.1002/cpt.1268.

Amy Turner’s contribution to the PharmVar Gene Review CYP2D6

Charity, N. et al. PharmVar GeneReview: CYP2D6. Clin Pharmacol Ther. 2019 Sep [ePub ahead].

Read more about PharmVar.

Genetic Testing Reference Materials Coordination Program (GeT-RM)

Dr. Broeckel and his research team have been an important contributor to the GeT-RM since 2015. As part of the Clinical Laboratory Improvement Amendments (CLIA) regulations of 1988, the Get-RM program is supported by the Centers for Disease Control and Prevention (CDC). The goal of the GeT-RM is to establish a PGx community dedicated to creating reference materials, quality control measures, and proficiency testing for genetic testing.

Dr. Broeckel’s team has characterized the PGx impact of genomic DNA reference materials utilizing the PharmacoScanTM and its predecessor DMET platform.

Pratt VM, et al. Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. J Mol Diagn. 2016 Jan;18(1):109-23.PMID: 26621101 PMCID: 4695224.

Gaedigk, A. et al. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project. The Journal of Molecular Diagnostics. 2019 Aug [ePub ahead].

Read more about Get-RM program.

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Collaborating Opportunities

As a team primarily driven by passion for science, we are excited to work with the bright minds in the precision medicine community. If you are interested in collaborating with RPRD, please contact us to discuss potential opportunities.

Improve Drug R&D

Pharmacogenetics testing is an increasingly important tool to mitigate risks for clinical trials, interpretation of clinical data and retrospective studies.

Improve Patient Outcomes

Through our continued research in advanced PGx technologies and solutions, we help clinicians practice personalized medicine to achieve better outcomes for their patients.