Josee Dupuis, PhD
Boston University School of Public Health
Dept of Biostatistics

PhD, Stanford University
MS, Stanford University

Josée Dupuis, Ph.D, is a Professor and Chair of Biostatistics at Boston University School of Public Health. She previously held a faculty position at Northwestern University and a senior statistical geneticist position at Genome Therapeutics Corporation, a small biotech company. She has extensive experience in the development and application of methods for genome-wide association studies, gene by environment interaction investigation, genetic meta-analysis and rare variant analysis, with special emphasis on the development of novel statistical approaches to analyze genetic data collected on large families. She is involved in the Framingham Heart Study, collaborating on projects to identify genes influencing diabetes related traits, pulmonary function traits and atrial fibrillation. She teaches BS860 (Statistical Genetics II) in the spring semester of even years.

Chair of Biostatistics
Boston University School of Public Health

Framingham Heart Study

Boston University
Bioinformatics Graduate Program

Boston University
Genome Science Institute

TOPMed Omics of Cardiovascular Disease in Diabetes
07/01/2020 - 06/30/2024 (Subcontract PI)
Massachusetts General Hospital NIH NHLBI

Nutritional Omics of Pulmonary Function Decline
11/15/2019 - 07/31/2023 (Subcontract PI)
RTI International NIH NHLBI

The Role of Genetic Susceptibility in Central American Kidney Disease Epidemic
07/01/2018 - 06/30/2023 (Co-Investigator of Sub-Project / SP)
PI: Daniel Brooks, DSc
NIH/National Diabetes & Digestive & Kidney Diseases

Mechanism connecting dysregulated BCAA glucose and lipid metabolism in the pathogenesis of metabolic disease
08/19/2019 - 07/31/2022 (Subcontract PI)
Duke University NIH NIDDK

TOPMed Omics of Type 2 Diabetes and Quantitative Traits
01/01/2021 - 12/31/2021 (Subcontract PI)
Massachusetts General Hospital NIH NIDDK

VA241-16-D-0012 VA Master Contract Task Order 23 (Luke Ruscowitz-Orazem)
09/01/2020 - 08/31/2021 (PI)
VA Boston Healthcare System

TOPMed Contribution to the AMP-T2D Knowledge Portal
04/01/2019 - 05/31/2021 (Co-Investigator)
PI: Ching-Ti Liu, PhD
Foundation for the National Institutes of Health

TOPMed Whole Genome Sequence Analysis of Type 2 Diabetes and Related Traits
05/01/2017 - 04/30/2021 (Subcontract PI)
The Broad Institute, Inc. NIH NIDDK

Statistical Research support for Biostatistics Student (Daniel Posner)
02/01/2016 - 01/31/2021 (PI)
VA Boston Healthcare System

VA241-17-D-0092 VA Master Contract Task Order 16
10/01/2019 - 09/30/2020 (PI)
VA Boston Healthcare System

Showing 10 of 37 results. Show All Results


Yr Title Project-Sub Proj Pubs

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

iCite Analysis       Copy PMIDs To Clipboard

  1. Hu X, Qiao D, Kim W, Moll M, Balte PP, Lange LA, Bartz TM, Kumar R, Li X, Yu B, Cade BE, Laurie CA, Sofer T, Ruczinski I, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Gabriel S, Gupta N, Dugan-Perez S, Cupples LA, Loehr LR, Jain D, Rotter JI, Wilson JG, Psaty BM, Fornage M, Morrison AC, Vasan RS, Washko G, Rich SS, O'Connor GT, Bleecker E, Kaplan RC, Kalhan R, Redline S, Gharib SA, Meyers D, Ortega V, Dupuis J, London SJ, Lappalainen T, Oelsner EC, Silverman EK, Barr RG, Thornton TA, Wheeler HE, Cho MH, Im HK, Manichaikul A. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 2022 May 05; 109(5):857-870.View Related Profiles. PMID: 35385699
  2. Wang Y, Chen H, Peloso GM, Meigs JB, Beiser AS, Seshadri S, DeStefano AL, Dupuis J. Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study. Am J Hum Genet. 2022 Apr 07; 109(4):738-749.View Related Profiles. PMID: 35316615
  3. Null M, Dupuis J, Sheinidashtegol P, Layer RM, Gignoux CR, Hendricks AE. RAREsim: A simulation method for very rare genetic variants. Am J Hum Genet. 2022 Apr 07; 109(4):680-691. PMID: 35298919
  4. DiCorpo D, LeClair J, Cole JB, Sarnowski C, Ahmadizar F, Bielak LF, Blokstra A, Bottinger EP, Chaker L, Chen YI, Chen Y, de Vries PS, Faquih T, Ghanbari M, Gudmundsdottir V, Guo X, Hasbani NR, Ibi D, Ikram MA, Kavousi M, Leonard HL, Leong A, Mercader JM, Morrison AC, Nadkarni GN, Nalls MA, Noordam R, Preuss M, Smith JA, Trompet S, Vissink P, Yao J, Zhao W, Boerwinkle E, Goodarzi MO, Gudnason V, Jukema JW, Kardia SLR, Loos RJF, Liu CT, Manning AK, Mook-Kanamori D, Pankow JS, Picavet HSJ, Sattar N, Simonsick EM, Verschuren WMM, Willems van Dijk K, Florez JC, Rotter JI, Meigs JB, Dupuis J, Udler MS. Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts. Diabetes Care. 2022 03 01; 45(3):674-683.View Related Profiles. PMID: 35085396; PMCID: PMC8918228; DOI: 10.2337/dc21-1395;
  5. Putman RK, Axelsson GT, Ash SY, Sanders JL, Menon AA, Araki T, Nishino M, Yanagawa M, Gudmundsson EF, Qiao D, San José Estépar R, Dupuis J, O'Connor GT, Rosas IO, Washko GR, El-Chemaly S, Raby BA, Gudnason V, DeMeo DL, Silverman EK, Hatabu H, DeVivo I, Cho MH, Gudmundsson G, Hunninghake GM. Interstitial lung abnormalities are associated with decreased mean telomere length. Eur Respir J. 2022 Feb 03.View Related Profiles. PMID: 35115336
  6. Zhang J, Xu H, Qiao D, DeMeo DL, Silverman EK, O'Connor GT, Hobbs BD, Dupuis J, Cho MH, Moll M. A Polygenic Risk Score and Age of Diagnosis of Chronic Obstructive Pulmonary Disease. Eur Respir J. 2022 Feb 03.View Related Profiles. PMID: 35115341
  7. Prescott BR, Saglam H, Duskin JA, Miller MI, Thakur AS, Gholap EA, Hutch MR, Smirnakis SM, Zafar SF, Dupuis J, Benjamin EJ, Greer DM, Ong CJ. Anisocoria and Poor Pupil Reactivity by Quantitative Pupillometry in Patients With Intracranial Pathology. Crit Care Med. 2022 02 01; 50(2):e143-e153.View Related Profiles. PMID: 34637415; PMCID: PMC8810747; DOI: 10.1097/CCM.0000000000005272;
  8. John C, Guyatt AL, Shrine N, Packer R, Olafsdottir TA, Liu J, Hayden LP, Chu SH, Koskela JT, Luan J, Li X, Terzikhan N, Xu H, Bartz TM, Petersen H, Leng S, Belinsky SA, Cepelis A, Hernández Cordero AI, Obeidat M, Thorleifsson G, Meyers DA, Bleecker ER, Sakoda LC, Iribarren C, Tesfaigzi Y, Gharib SA, Dupuis J, Brusselle G, Lahousse L, Ortega VE, Jonsdottir I, Sin DD, Bossé Y, van den Berge M, Nickle D, Quint JK, Sayers I, Hall IP, Langenberg C, Ripatti S, Laitinen T, Wu AC, Lasky-Su J, Bakke P, Gulsvik A, Hersh CP, Hayward C, Langhammer A, Brumpton B, Stefansson K, Cho MH, Wain LV, Tobin MD. Genetic Associations and Architecture of Asthma-COPD Overlap. Chest. 2022 May; 161(5):1155-1166. PMID: 35104449
  9. Wu P, Moon JY, Daghlas I, Franco G, Porneala BC, Ahmadizar F, Richardson TG, Isaksen JL, Hindy G, Yao J, Sitlani CM, Raffield LM, Yanek LR, Feitosa MF, Cuadrat RRC, Qi Q, Arfan Ikram M, Ellervik C, Ericson U, Goodarzi MO, Brody JA, Lange L, Mercader JM, Vaidya D, An P, Schulze MB, Masana L, Ghanbari M, Olesen MS, Cai J, Guo X, Floyd JS, Jäger S, Province MA, Kalyani RR, Psaty BM, Orho-Melander M, Ridker PM, Kanters JK, Uitterlinden A, Davey Smith G, Gill D, Kaplan RC, Kavousi M, Raghavan S, Chasman DI, Rotter JI, Meigs JB, Florez JC, Dupuis J, Liu CT, Merino J. Obesity Partially Mediates the Diabetogenic Effect of Lowering LDL Cholesterol. Diabetes Care. 2022 01 01; 45(1):232-240.View Related Profiles. PMID: 34789503; PMCID: PMC8753762; DOI: 10.2337/dc21-1284;
  10. Wang S, Meigs JB, Dupuis J. Genetic association tests in family samples for multi-category phenotypes. BMC Genomics. 2021 Dec 04; 22(1):873. PMID: 34863089; PMCID: PMC8642939; DOI: 10.1186/s12864-021-08107-x;
Showing 10 of 293 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 293 publications over 28 distinct years, with a maximum of 22 publications in 2014 and 2015 and 2016


2020 American Society of Human Genetics : Mentorship Award
2019 International Genetic Epidemiology (IGES) : Leadership Award
2019 University of Colorado, Denver: Benjamin F. Stapleton, Jr. Lecture
2015 American Association for the Advancement of Science (AAAS): Fellow of the American Association for the Advancement of Science
2015 Boston University School of Public Health: Faculty Career Award in Research and Scholarship
2014 Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Senior Leadership Award
2013 American Statistical Association: Fellow of the American Statistical Association
In addition to these self-described keywords below, a list of MeSH based concepts is available here.

Statistical Genetics
Type-2 Diabetes
Machine Learning
Gene-Environment Interactions

I am Professor and Chair of Biostatistics at the School of Public Health. I have been a mentor to over 35 students, post-doctoral and junior faculty trainees on research projects, and I have mentored many students, fellows and faculty in career development. I have also served as a mentor for the early-career faculty development program. I was fortunate to have outstanding and influential mentors throughout my career, and I strongly believe in "paying it forward" by providing the kind of mentoring that I was fortunate to receive.

My research expertise is statistical genetics, with special emphasis on the development and implementation of new statistical approaches for rare variant analysis, gene by environment evaluation and meta-analysis, with a focus on the analysis of family data. These new methods have been applied to multiple disease areas, such as type-2 diabetes and related traits, pulmonary functions and inflammation biomarkers, in order to elucidate the genetic architecture of these traits.

Available to Mentor as: (Review Mentor Role Definitions):
  • Career Mentor
  • Project Mentor
  • Research / Scholarly Mentor
Contact for Mentoring:
  • Email (see 'Contact Info')

801 Massachusetts Ave Crosstown Center
Boston MA 02118
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