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

PhD, Stanford University
MS, Stanford University
BS, Concordia 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

Nutritional Omics of Pulmonary Function Decline
11/15/2019 - 07/31/2023 (PI of Sub-Project / SP)
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

TOPMed Omics of Type 2 Diabetes and Quantitative Traits
01/01/2021 - 12/31/2022 (PI of Sub-Project / SP)
Massachusetts General Hospital NIH NIDDK

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

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

VA241-16-D-0012 VA Master Contact Task Order 1-6, 9
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

VA241-16-D-0012 VA Master Contact Task Order 15
09/01/2019 - 08/31/2020 (PI)
VA Boston Healthcare System

Showing 10 of 36 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. Peljto AL, Blumhagen RZ, Walts AD, Cardwell J, Powers J, Corte TJ, Dickinson JL, Glaspole I, Moodley YP, Vasakova MK, Bendstrup E, Davidsen JR, Borie R, Crestani B, Dieude P, Bonella F, Costabel U, Gudmundsson G, Donnelly SC, Egan J, Henry MT, Keane MP, Kennedy MP, McCarthy C, McElroy AN, Olaniyi JA, O'Reilly KMA, Richeldi L, Leone PM, Poletti V, Puppo F, Tomassetti S, Luzzi V, Kokturk N, Mogulkoc N, Fiddler CA, Hirani N, Jenkins G, Maher TM, Molyneaux PL, Parfrey H, Braybrooke R, Blackwell TS, Jackson PD, Nathan SD, Porteous MK, Brown KK, Christie JD, Collard HR, Eickelberg O, Foster EE, Gibson KF, Glassberg M, Kass D, Kropski JA, Lederer D, Linderholm AL, Loyd J, Mathai SK, Montesi SB, Noth I, Oldham JM, Palmisciano AJ, Reichner CA, Rojas M, Roman J, Schluger N, Shea BS, Swigris JJ, Wolters PJ, Zhang Y, Prele CMA, Enghelmayer JI, Otaola M, Ryerson CJ, Salinas M, Sterclova M, Gebremariam TH, Myllärniemi M, Carbone R, Furusawa H, Hirose M, Inoue Y, Miyazaki Y, Ohta K, Ohta S, Okamoto T, Kim DS, Pardo A, Selman M, Aranda AU, Park MS, Park JS, Song JW, Molina-Molina M, Planas-Cerezales L, Westergren-Thorsson G, Smith AV, Manichaikul AW, Kim JS, Rich SS, Oelsner EC, Barr RG, Rotter JI, Dupuis J, O'Connor G, Vasan RS, Cho MH, Silverman EK, Schwarz MI, Steele MP, Lee JS, Yang IV, Fingerlin TE, Schwartz DA. Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants. Am J Respir Crit Care Med. 2023 Jan 05. PMID: 36602845; DOI: 10.1164/rccm.202207-1331OC;
  2. Sarnowski C, Conomos MP, Vasan RS, Meigs JB, Dupuis J, Liu CT, Leong A. Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations. Circ Genom Precis Med. 2023 Jan 04; e003858.View Related Profiles. PMID: 36598822; DOI: 10.1161/CIRCGEN.122.003858;
  3. Jiang W, Joehanes R, Levy D, O'Connor GT, Dupuis J. Assisted clustering of gene expression data using regulatory data from partially overlapping sets of individuals. BMC Genomics. 2022 Dec 10; 23(1):819. PMID: 36496393; DOI: 10.1186/s12864-022-09026-1;
  4. Kim ISY, Balogun OO, Prescott BR, Saglam H, Olson DM, Speir K, Stutzman SE, Schneider N, Aguilera V, Lussier BL, Smirnakis SM, Dupuis J, Mian A, Greer DM, Ong CJ. Quantitative pupillometry and radiographic markers of intracranial midline shift: A pilot study. Front Neurol. 2022; 13:1046548. PMID: 36561299; DOI: 10.3389/fneur.2022.1046548;
  5. Kim W, Hecker J, Barr RG, Boerwinkle E, Cade B, Correa A, Dupuis J, Gharib SA, Lange L, London SJ, Morrison AC, O'Connor GT, Oelsner EC, Psaty BM, Vasan RS, Redline S, Rich SS, Rotter JI, Yu B, Lange C, Manichaikul A, Zhou JJ, Sofer T, Silverman EK, Qiao D, Cho MH. Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Hum Mol Genet. 2022 Nov 10; 31(22):3873-3885.View Related Profiles. PMID: 35766891; DOI: 10.1093/hmg/ddac117;
  6. Zhang Y, Meigs JB, Liu CT, Dupuis J, Sarnowski C. Leveraging family history in genetic association analyses of binary traits. BMC Genomics. 2022 Oct 01; 23(1):678.View Related Profiles. PMID: 36182916; DOI: 10.1186/s12864-022-08897-8;
  7. 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 COPD. Eur Respir J. 2022 Sep; 60(3).View Related Profiles. PMID: 35115341
  8. Ilori TO, Liu J, Rodan AR, Verma A, Mills KT, He J, Winkler CA, Dupuis J, Anderson CAM, Waikar SS. Apolipoprotein L1 Genotypes and the Association of Urinary Potassium Excretion with CKD Progression. Clin J Am Soc Nephrol. 2022 Oct; 17(10):1477-1486.View Related Profiles. PMID: 36400568; DOI: 10.2215/CJN.02680322;
  9. 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 Aug; 60(2).View Related Profiles. PMID: 35115336
  10. Haslam DE, Chasman DI, Peloso GM, Herman MA, Dupuis J, Lichtenstein AH, Smith CE, Ridker PM, Jacques PF, Mora S, McKeown NM. Sugar-sweetened Beverage Consumption and Plasma Lipoprotein Cholesterol, Apolipoprotein, and Lipoprotein Particle Size Concentrations in U.S. Adults. J Nutr. 2022 Aug 02.View Related Profiles. PMID: 35918259; DOI: 10.1093/jn/nxac166;
Showing 10 of 305 results. Show More

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

Bar chart showing 305 publications over 29 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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