World's Best Scientists 2026 revealed!

D-Index & Metrics

Computer Science

D-Index
84
Citations
31747
World Ranking
843
National Ranking
459

Medicine

D-Index
111
Citations
52347
World Ranking
5288
National Ranking
2855

Research.com Recognitions

  • 2017 - Member of the National Academy of Medicine (NAM)

Overview

Joshua C. Denny is affiliated with the National Institutes of Health in the United States. Their research focuses primarily on medicine and biochemistry, genetics, and molecular biology, with a notable emphasis on genetics and molecular biology as subfields. Their work spans various topics including genetic associations and epidemiology, genomics and rare diseases, BRCA gene mutations in cancer, health, environment, cognitive aging, liver disease diagnosis and treatment, bioinformatics and genomic networks, and biomedical text mining and ontologies.

The scientist has contributed extensively to the academic community, with frequent publications in several prominent venues. The most common publication platforms include bioRxiv (Cold Spring Harbor Laboratory), the Journal of the American Medical Informatics Association, Nature Communications, Genetics in Medicine Open, and Genetics in Medicine.

Among their recent published papers are:

  • A genomic mutational constraint map using variation in 76,156 human genomes (2023, Nature)
  • Precision medicine in 2030-seven ways to transform healthcare (2021, Cell)
  • Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis (2022, Nature Genetics)
  • The All of Us Research Program: Data quality, utility, and diversity (2022, Patterns)
  • Diversity and inclusion for the All of Us research program: A scoping review (2020, PLoS ONE)

Joshua C. Denny frequently collaborates with other researchers in the field. Some of their most frequent co-authors include:

  • Dan M. Roden
  • Hákon Hákonarson
  • Wei-Qi Wei
  • Gail P. Jarvik
  • David R. Crosslin

The research scope of Joshua C. Denny covers extensive areas within medicine, particularly those aligned with genetic and molecular aspects of human health. Their strong involvement in genetic epidemiology and their contribution to understanding rare and complex diseases through genomics underscores their multidisciplinary approach.

In recognition of their work, Joshua C. Denny was awarded membership in the National Academy of Medicine in 2017.

Best Publications

  • Genetics of rheumatoid arthritis contributes to biology and drug discovery

    Yukinori Okada;Yukinori Okada;Di Wu;Di Wu;Di Wu;Gosia Trynka;Gosia Trynka;Towfique Raj;Towfique Raj

  • Defining the role of common variation in the genomic and biological architecture of adult human height

    Andrew R. Wood;Tonu Esko;Jian Yang;Sailaja Vedantam

  • A Gene-Based Association Method for Mapping Traits Using Reference Transcriptome Data

    Eric R Gamazon;Heather E Wheeler;Kaanan P Shah;Sahar V Mozaffari

  • Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

    Wei Zhou;Jonas B. Nielsen;Lars G. Fritsche;Rounak Dey

  • PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

    Joshua C. Denny;Marylyn D. Ritchie;Melissa A. Basford;Jill M. Pulley

  • Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

    Joshua C. Denny;Lisa Bastarache;Marylyn D. Ritchie;Robert J. Carroll

  • The "All of Us" Research Program.

    Joshua C. Denny;Stephanie A. Devaney;Kelly A. Gebo

  • Artificial intelligence, bias and clinical safety.

    Robert Challen;Joshua Denny;Martin Pitt;Luke Gompels

  • Multi-Ethnic Genome-wide Association Study for Atrial Fibrillation

    Carolina Roselli;Mark D. Chaffin;Lu Chen Weng;Lu Chen Weng;Stefanie Aeschbacher

  • The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

    Omri Gottesman;Helena Kuivaniemi;Gerard Tromp;W. Andrew Faucett

  • MedEx: a medication information extraction system for clinical narratives.

    Hua Xu;Shane P Stenner;Son Doan;Kevin B Johnson

  • Exome-wide association study of plasma lipids in > 300,000 individuals

    Dajiang J Liu;Gina M Peloso;Gina M Peloso;Haojie Yu;Adam S Butterworth;Adam S Butterworth

  • Inactivating mutations in NPC1L1 and protection from coronary heart disease

    Nathan O. Stitziel;Hong Hee Won;Alanna C. Morrison;Gina M. Peloso

  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

    Cristian Pattaro;Alexander Teumer;Mathias Gorski;Audrey Y. Chu

  • Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

    Patrick Wu;Aliya Gifford;Xiangrui Meng;Xue Li

  • R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

    Robert J. Carroll;Lisa Bastarache;Joshua C. Denny

  • Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

    Nathan O. Stitziel;Kathleen E. Stirrups;Nicholas G. D. Masca;Jeanette Erdmann

  • Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

    A Giri;J N Hellwege;J M Keaton;J M Keaton;J Park

  • Data from clinical notes: a perspective on the tension between structure and flexible documentation.

    S. Trent Rosenbloom;Joshua C. Denny;Hua Xu;Nancy M. Lorenzi

  • Operational implementation of prospective genotyping for personalized medicine: The design of the Vanderbilt PREDICT project

    J. M. Pulley;J. C. Denny;J. F. Peterson;G. R. Bernard

  • Validation of Electronic Medical Record-Based Phenotyping Algorithms: Results and Lessons Learned From the eMERGE Network

    Katherine M. Newton;Peggy L. Peissig;Abel Ngo Kho;Suzette J. Bielinski

Frequent Co-Authors

Dan M. Roden
Dan M. Roden Vanderbilt University Medical Center
Hua Xu
Hua Xu Yale University
Marylyn D. Ritchie
Marylyn D. Ritchie University of Pennsylvania
Gail P. Jarvik
Gail P. Jarvik University of Washington
Jyotishman Pathak
Jyotishman Pathak Cornell University
Dana C. Crawford
Dana C. Crawford Case Western Reserve University
Christopher G. Chute
Christopher G. Chute Johns Hopkins University
Catherine A. McCarty
Catherine A. McCarty University of Minnesota
Rex L. Chisholm
Rex L. Chisholm Northwestern University
Bruce M. Psaty
Bruce M. Psaty University of Washington

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