PhD., Statistics

University of Chicago

Chicago, IL

2019

BSc Biology & Mathematical Sciences

DePaul University

Chicago, IL

2011

Senior Manager, Statistical Genetics

Regeneron Genetics Center

Tarrytown, New York

Current - 2024

• Leading and mentoring a team member in the development of an analytical pipeline for time-to-event data.

Manager, Statistical Genetics

Regeneron Genetics Center

Tarrytown, New York

2023 - 2022

• Routinely carry out statistical analyses using cloud-based computing platforms on large-scale and high-dimensional human genetics datasets containing millions of genetic variants and 100,000s of individuals
• Develop statistical methods and computational tools geared for large-scale genetic and genomics studies
• Build WDL pipelines for data sets with 100,000s of individuals from whole-exome and whole-genome sequencing data

Senior Statistical Geneticist

Regeneron Genetics Center

Tarrytown, New York

2021 - 2019

• Developed a computational efficient whole genome regression method REGENIE for large-scale genetic association analyses which can be more than 100x faster than current state-of-the-art methods and can handle population structure and imbalanced binary traits
• Implemented REGENIE into a C++ software which was publicly released on Github
• Published the REGENIE method as first author in Nature Genetics where it was applied to UK Biobank data (>100 phenotypes, >400K individuals and >10M genetic variants).

Graduate Student Researcher

Department of Statistics

University of Chicago

2019 - 2013

• Developed a computationally fast method JASPER to assess significance for a general class of association tests, including tests for high dimensional phenotypes and gene-based tests, adjusting for population structure and family relatedness
• Designed a permutation-based testing procedure BRASS for assessing significance with binary traits in structured samples for association tests with unknown exact/asymptotic distributions.
• Built C/C++ software to evaluate JASPER and BRASS through simulation studies & real data applications.

Instructor

Summer Institute in Statistical Genetics

University of Washington

2023 - 2022

• Taught the association mapping module on genome-wide association studies and sequencing (120 students)
• Designed coursework as well as hands-on practical exercises using software such as PLINK, REGENIE and R packages GWASTools and bigsnpr.
• Built a website to host the course materials using workflowr R package.

Teaching Assistant

Department of Statistics

University of Chicago

2019 - 2012

• Assisted in undergraduate courses: Statistical Methods and Applications, Statistical Models/Methods, Applied Regression Analysis and Analysis of Categorical Data
• Created introductory material for R and STATA through weekly computer sessions
• Organized weekly office hours where students expanded their understanding of course materials

Course Instructor

Department of Statistics

University of Chicago

2018

• Taught an introductory course on statistical methods (STAT 234: Statistical Models/Methods).
• Designed course materials and delivered bi-weekly lectures to a class of 36 students.
• Assisted students in office hours with learning statistical concepts as well as R programming skills.

Statistics Collaborative Learning Team Leader

Department of Statistics

University of Chicago

2017 - 2016

• Facilitated the design of a new program based on collaborative learning.
• Designed practical exercises based on class mateirals and supervised weekly hands-on workshops for students.

Selected as one of 35 innovators under 35

MIT Technology Review

N/A

2022

Selected as one of 17 Rising Stars in Health Tech

Fierce Health Care

N/A

2022

Selected for Reviewers’ Choice (top 10% scoring abstracts)

American Society of Human Genetics

N/A

2021

Department of Education GAANN Fellowship Recipient

University of Chicago

N/A

2013

Departmental Award for Outstanding Performance in Organic Chemistry

DePaul University

N/A

2010

Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Nature

N/A

2023

• Authors: Ziyatdinov, A., Torres, J., Alegre-Díaz, J., Backman, J., Mbatchou, J., Turner, M., et al.

BRASS: Permutation methods for binary traits in genetic association studies with structured samples

PLoS Genetics

N/A

2023

• Authors: Mbatchou, J., Abney, M., & McPeek, M. S.

Rare coding variants in CHRNB2 reduce the likelihood of smoking

Nature Genetics

N/A

2023

• Authors: Rajagopal, V. M., Watanabe, K., Mbatchou, J., Ayer, A., Quon, P., et al.

Common and rare variant associations with clonal haematopoiesis phenotypes.

Nature

N/A

2022

• Authors: Kessler, M. D., Damask, A., O’Keeffe, S., Banerjee, N., Li, D., Watanabe, K., Marketta, A., Van Meter, M., Semrau, S., Horowitz, J., Tang, J., Kosmicki, J. A., Rajagopal, V. M., Zou, Y., Houvras, Y., Ghosh, A., Gillies, C., Mbatchou, J., et al.

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.

Nature Genetics

N/A

2022

• Authors: Horowitz, J. E., Kosmicki, J. A., Damask, A., Sharma, D., Roberts, G. H. L., Justice, A. E., Banerjee, N., Coignet, M. V., Yadav, A., Leader, J. B., Marcketta, A., Park, D. S., Lanche, R., Maxwell, E., Knight, S. C., Bai, X., Guturu, H., Sun, D., Baltzell, A., Kury, F. S. P., Backman, J. D., Girshick, A. R., O’Dushlaine, C., McCurdy, S. R., Partha, R., Mansfield, A. J., Turissini, D. A., Li, A. H., Zhang, M., Mbatchou, J., et al.

Germline Mutations in CIDEB and Protection against Liver Disease.

New England Journal of Medicine

N/A

2022

• Authors: Verweij, N., Haas, M. E., Nielsen, J. B., Sosina, O. A., Kim, M., Akbari, P., De, T., Hindy, G., Bovijn, J., Persaud, T., Miloscio, L., Germino, M., Panagis, L., Watanabe, K., Mbatchou, J., et al.

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.

Science

N/A

2021

• Authors: Akbari, P., Gilani, A., Sosina, O., Kosmicki, J. A., Khrimian, L., Fang, Y. Y., Persaud, T., Garcia, V., Sun, D., Li, A., Mbatchou, J., et al.

Exome sequencing and analysis of 454,787 UK Biobank participants.

Nature

N/A

2021

• Authors: Backman, J. D., Li, A. H., Marcketta, A., Sun, D., Mbatchou, J., et al.

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.

American Journal of Human Genetics

N/A

2021

• Authors: Kosmicki, J. A., Horowitz, J. E., Banerjee, N., Lanche, R., Marcketta, A., Maxwell, E., Bai, X., Sun, D., Backman, J. D., Sharma, D., Kury, F. S. P., Kang, H. M., O’Dushlaine, C., Yadav, A., Mansfield, A. J., Li, A. H., Watanabe, K., Gurski, L., McCarthy, S. E., Locke, A. E., Khalid, S., O’Keeffe, S., Mbatchou, J., et al.

Computationally efficient whole-genome regression for quantitative and binary traits.

Nature Genetics

N/A

2021

• Authors: Mbatchou, J., Barnard, L., Backman, J., Marcketta, A., Kosmicki, J. A., Ziyatdinov, et al.

Retrospective Association Analysis of Binary Traits: Overcoming Some Limitations of the Additive Polygenic Model.

Human Heredity

N/A

2015

• Authors: Jiang, D., Mbatchou, J. & McPeek, M. S.

New insights into relationships of lichen-forming Dothideomycetes.

Fungal Diversity

N/A

2011

• Authors: Nelsen, M. P., Lücking, R., Mbatchou, J. S., Andrew, C. J., Spielmann, A. A. & Lumbsch, H. T.

Heiomasia, a new genus in the lichen-forming family Graphidaceae (Ascomycota: Lecanoromycetes: Ostropales) with disjunct distribution in Southeastern North America and Southeast Asia.

The Bryologist

N/A

2010

• Authors: Nelsen, M. P., Lücking, R., Plata, E. R. & Mbatchou, J. S.

A class-wide phylogenetic assessment of Dothideomycetes.

Studies in Mycology

N/A

2009

• Authors: Schoch, C. L., Crous, P. W., Groenewald, J. Z., Boehm, E. W., Burgess, T. I., Gruyter, J. de, Hoog, G. S. de, Dixon, L. J., Grube, M., Gueidan, C., Harada, Y., Hatakeyama, S., Hirayama, K., Hosoya, T., Huhndorf, S. M., Hyde, K. D., Jones, E. B., Kohlmeyer, J., Kruys, A., Li, Y. M., Lucking, R., Lumbsch, H. T., Marvanova, L., Mbatchou, J. S., et al.

Manuscript reviewer

Nature Genetics, Genetic Epidemiology, Bioinformatics.

N/A

N/A

Using protein language model annotations to improve the power of exome-wide association studies

The American Society of Human Genetics Annual Meeting

N/A

2023

• Poster presentation

Powerful gene-based testing for exome-wide association studies

University of Washington Statistical Genetics Symposium

N/A

2023

• Invited Talk

REGENIE v3: more efficient analysis of rare genetic variation with an extended set of gene-based tests

The American Society of Human Genetics Annual Meeting

N/A

2022

• Poster presentation

Computationally efficient whole-genome regression framework for association analyses in large-scale biobanks.

International Common Disease Alliance

N/A

2022

• Virtual Scientific Plenary

Gene-burden tests, gene-environment interactions and time-to-event data analysis within an efficient whole genome regression framework for large-scale biobanks.

The American Society of Human Genetics Annual Meeting

N/A

2021

• Poster presentation

Fast and robust methods to detect gene-environment interactions in large-scale biobanks.

International Genetic Epidemiology Society Conference

N/A

2021

• Lightning talk

Computationally efficient whole-genome regression for quantitative and binary traits.

The American Society of Human Genetics Annual Meeting

N/A

2020

• Platform talk

A generalized permutation testing method for binary trait association in structured samples.

The American Society of Human Genetics Annual Meeting

N/A

2017

• Poster presentation

Genetic association analysis of binary traits in structured samples.

Eastern North American Region Spring Meeting

N/A

2017

• Poster presentation