Michigan Genomics Initiative


Listed below are 74 publications or preprints that have used MGI data as of 9/14/2023. We aim to update this list as new research become available, so please email brettva@umich.edu if you would like us to add yours.

If you use MGI data in your work, please cite this publication in your paper:

Zawistowski, M. et al. The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients. Cell Genomics 3, 100257 (2023).


Title Journal Authors Year
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease Nat Genet Chen Y, Du X, Kuppa A, et al. 2023
Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus Nat Commun Khunsriraksakul C, Li Q, Markus H, et al. 2023
Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes Genetic Epidemiology Shoaib M, Ye Q, IglayReger H, et al. 2023
PNPLA3 Genotype and Diabetes Identify Patients With Nonalcoholic Fatty Liver Disease at High Risk of Incident Cirrhosis Gastroenterology Chen VL, Oliveri A, Miller MJ, et al. 2023
Identifying the prevalence of clinically actionable drug-gene interactions in a health system biorepository to guide pharmacogenetics implementation services Clinical and Translational Science Pasternak AL, Ward K, Irwin M, et al. 2023
Meta-analysis fine-mapping is often miscalibrated at single-variant resolution Cell Genomics Kanai M, Elzur R, Zhou W, et al. 2022
Eight pharmacokinetic genetic variants are not associated with the risk of bleeding from direct oral anticoagulants in non-valvular atrial fibrillation patients Frontiers in Pharmacology Campos-Staffico AM, Dorsch MP, Barnes GD, et al. 2022
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Genome Biology Kanoni S, Graham SE, Wang Y, et al. 2022
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals Commun Biol Winkler TW, Rasheed H, Teumer A, et al. 2022
COVID-19 and Thyroid Function: A Bi-Directional Two-Sample Mendelian Randomization Study Thyroid Li GH-Y, Tang C-M, Cheung C-L. 2022
Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity Cell Genom Tsuo K, Zhou W, Wang Y, et al. 2022
The Phenotype-Genotype Reference Map: Improving biobank data science through replication bioRxiv Bastarache L, Delozier S, Pandit A, et al. 2022
The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients Cell Genomics Zawistowski M, Fritsche LG, Pandit A, et al. 2022
Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics Cell Genomics Partanen JJ, Häppölä P, Zhou W, et al. 2022
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease Cell Genomics Zhou W, Kanai M, Wu K-HH, et al. 2022
ExPRSweb: An online repository with polygenic risk scores for common health-related exposures Am J Hum Genet Ma Y, Patil S, Zhou X, et al. 2022
Genetic variants associated with sepsis PLoS One Engoren M, Jewell ES, Douville N, et al. 2022
Impact of Pharmacogenetics on Intravenous Tacrolimus Exposure and Conversions to Oral Therapy Transplant Cell Ther Pasternak AL, Marcath LA, Li Y, et al. 2022
A Substitution in the Glutathione Reductase Lowers Electron Leakage and Inflammation in Modern Humans Science Advances Coppo L, Mishra P, Siefert N, et al. 2022
The Major Genetic Risk Factor for Severe COVID-19 Is Associated with Protection against HIV Proc Natl Acad Sci USA Zeberg H. 2022
Predicting Persistent Opioid Use after Surgery Using Electronic Health Record and Patient-Reported Data Surgery Singh K, Murali A, Stevens H, et al. 2022
A first update on mapping the human genetic architecture of COVID-19 Nature Pathak GA, Karjalainen J, Stevens C, et al. 2022
Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-Wide Association Study of 46,782 Individuals Biol Psychiatry Fang Y, Fritsche LG, Mukherjee B, et al. 2022
Assessing the Added Value of Linking Electronic Health Records to Improve the Prediction of Self-Reported COVID-19 Testing and Diagnosis PLoS One Clark-Boucher D, Boss J, Salvatore M, et al. 2022
Polygenic Risk Prediction in Diverticulitis Ann Surg De Roo AC, Chen Y, Du X, et al. 2022
Genome-Wide Meta-Analysis of Iron Status Biomarkers and the Effect of Iron on All-Cause Mortality in HUNT Commun Biol Moksnes MR, Graham SE, Wu K-H, et al. 2022
Hepatic decompensation is accelerated in patients with cirrhosis and alpha-1 antitrypsin Pi∗MZ genotype JHEP Rep Chen VL, Burkholder DA, Moran IJ, et al 2022
Inflammatory Bowel Disease Risk Variants Are Associated with an Increased Risk of Skin Cancer Inflamm Bowel Dis Cushing KC, Du X, Chen Y, et al. 2022
The Construction of Multi-Ethnic Polygenic Risk Score Using Transfer Learning medRxiv Zhao Z, Fritsche LG, Smith JA, et al. 2022
The Power of Genetic Diversity in Genome-Wide Association Studies of Lipids Nature Graham SE, Clarke SL, Wu K-HH, et al. 2021
On Cross-Ancestry Cancer Polygenic Risk Scores PLoS Genet Fritsche LG, Ma Y, Zhang D, et al. 2021
False Discovery Rates for Genome-Wide Association Tests in Biobanks with Thousands of Phenotypes Research Square preprint Annis A, Pandit A, LeFaive J, et al. 2021
Exposure and risk factors for COVID-19 and the impact of staying home on Michigan residents PLoS One Wu K-HH, Hornsby WE, Klunder B, et al. 2021
A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank Am J Hum Genet Dutta D, VandeHaar P, Fritsche LG, et al. 2021
A survey of functional dyspepsia in 361,360 individuals: Phenotypic and genetic cross‐disease analyses Neurogastroenterology & Motility Garcia-Etxebarria K, Carbone F, Teder-Laving M, et al. 2021
Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases Nat Commun Georges A, Yang M-L, Berrandou T-E, et al. 2021
Mapping the human genetic architecture of COVID-19 Nature Niemi MEK, Karjalainen J, Liao RG, et al. 2021
Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants BMC Med Genomics Beil A, Hornsby W, Uhlmann WR, et al. 2021
Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease Gut Zheng T, Ellinghaus D, Juzenas S, et al. 2021
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm Am J Hum Genet Roychowdhury T, Lu H, Hornsby WE, et al. 2021
Genome-Wide Association Study of Pelvic Organ Prolapse Using the Michigan Genomics Initiative Female Pelvic Med Reconstr Surg Cox CK, Pandit A, Zawistowski M, et al. 2021
Allele-specific variation at APOE increases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer’s disease and myocardial infarction Human Molecular Genetics Palmer ND, Kahali B, Kuppa A, et al. 2021
Patients carrying DPYD variant alleles have increased risk of severe toxicity and related treatment modifications during fluoropyrimidine chemotherapy Pharmacogenomics Shakeel F, Fang F, Kwon JW, et al. 2021
Why are rare variants hard to impute? Coalescent models reveal theoretical limits in existing algorithms Genetics Si Y, Vanderwerff B, Zöllner S 2021
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks J Biomed Inform Salvatore M, Beesley LJ, Fritsche LG, et al. 2021
Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records Br J Anaesth Douville NJ, Kheterpal S, Engoren M, et al. 2020
Use of a Polygenic Risk Score Improves Prediction of Myocardial Injury After Non-Cardiac Surgery Circ Genom Precis Med Douville NJ, Surakka I, Leis A, et al. 2020
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer Nat Commun Zhou W, Brumpton B, Kabil O, et al. 2020
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease Nat Commun Nielsen JB, Rom O, Surakka I, et al. 2020
Chromosome 1q21. 2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction Nat Commun Saw J, Yang M-L, Trinder M, et al. 2020
LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks PLoS Genet Goldstein JA, Weinstock JS, Bastarache LA, et al. 2020
Statistical inference for association studies using electronic health records: handling both selection bias and outcome misclassification Biometrics Beesley LJ, Mukherjee B 2020
Novel score test to increase power in association test by integrating external controls Genet Epidemiol Li Y, Lee S 2020
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks Am J Hum Genet Fritsche LG, Patil S, Beesley LJ, et al. 2020
An analytic framework for exploring sampling and observation process biases in genome and phenome-wide association studies using electronic health records Stat Med Beesley LJ, Fritsche LG, Mukherjee B 2020
Interaction analysis under misspecification of main effects: Some common mistakes and simple solutions Stat Med Zhang M, Yu Y, Wang S, et al. 2020
The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities Stat Med Beesley LJ, Salvatore M, Fritsche LG, et al. 2020
Genetic variants that associate with cirrhosis have pleiotropic effects on human traits Liver Int Chen VL, Chen Y, Du X, et al. 2020
Heritability of the Fibromyalgia Phenotype Varies by Age Arthritis Rheumatol Dutta D, Brummett CM, Moser SE, et al. 2020
Estimation of DNA contamination and its sources in genotyped samples Genet Epidemiol Zajac GJM, Fritsche LG, Weinstock JS, et al. 2019
Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test Genet Epidemiol Dutta D, Gagliano Taliun SA, Weinstock JS, et al. 2019
Body Composition and Genetic Lipodystrophy Risk Score Associate With Nonalcoholic Fatty Liver Disease and Liver Fibrosis Hepatol Commun Chen VL, Wright AP, Halligan B, et al. 2019
Health Care Burden Associated with Outpatient Opioid Use Following Inpatient or Outpatient Surgery J Manag Care Spec Pharm Brummett CM, England C, Evans-Shields J, et al. 2019
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb PLoS Genet Fritsche LG, Beesley LJ, VandeHaar P, et al. 2019
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis Nat Commun Graham SE, Nielsen JB, Zawistowski M, et al. 2019
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes Nat Commun Gusarova V, O’Dushlaine C, Teslovich TM, et al. 2018
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology Nat Genet Nielsen JB, Thorolfsdottir RB, Fritsche LG, et al. 2018
Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease Nat Genet Maguire LH, Handelman SK, Du X, et al. 2018
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative Am J Hum Genet. Fritsche LG, Gruber SB, Wu Z, et al. 2018
Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration Ophthalmology Pietraszkiewicz A, van Asten F, Kwong A, et al. 2018
Prevalence of Preoperative Opioid Use and Characteristics Associated With Opioid Use Among Patients Presenting for Surgery JAMA Surgery Hilliard PE, Waljee J, Moser S, et al. 2018
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development Am J Hum Genet Nielsen JB, Fritsche LG, Zhou W, et al. 2018
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve Nat Commun Yang B, Zhou W, Jiao J, et al. 2017
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS Am J Hum Genet Dey R, Schmidt EM, Abecasis GR, et al. 2017