I am an assistant professor in the Department of Computational Biology at the Carnegie Mellon University School of Computer Science. I study problems at the intersections of human genetics, statistics, quantitative psychology, and applied mathematics. My primary research interests include:

1. Nonrandom mating and other forms of population structure, particularly how they impact inference about genetic architecture

2. Scalable Bayesian inference and other methods for the efficient and flexible analysis and simulation of genome-wide data.

3. Metascience, measurement, model misspecification, and sensitivity analysis.

Manuscripts under review

• Sadowski, M, Dahl, AW, Zaitlen, N, Border, R. "The geometry of g × e: How scaling and endogenous treatment effects shape interaction direction." Invited for resubmission at PLOS Genetics. doi.org/10.1101/2025.07.15.664999
• Border, R, Wang, J, Caggiano, C, …, Benjamin, DJ, Dahl, AW, Zaitlen, N. "Simple models of non-random mating and environmental transmission bias standard human genetics statistical methods." Invited for resubmission at Nature Genetics. doi.org/10.1101/2024.10.16.618755
• Tan, T, Jayashankar, H, Guan, J, …, Border, R, …, Okbay, A, Benjamin, DJ, Young, AS. "Family-GWAS reveals effects of environment and mating on genetic associations." Out for review at Nature. doi.org/10.1101/2024.10.01.24314703
• Ercelen, D, Caggiano, C, Border, R, Sankararaman, S, Mangul, S, Zaitlen, N, Thompson, M. "Identifying novel genetic and phenotypic associations to genomic features by leveraging off-target reads in exome sequencing data." doi.org/10.1101/2024.11.30.625754

Peer-reviewed publications

• Cai, N, Dahl, A, Border, R, …, Schork, AJ, Kendler, K, Flint, J (2026). "The predicament of heritable confounders." Nature Genetics.
• Jang, S, Wang, Z, Border, R, …, Ntranos, V, Flint, J, Zaitlen, N (2025). "Leveraging protein language models to identify complex trait associations with previously inaccessible classes of functional rare variants." Cell Genomics.
• Fu, B, Border, R, Sankararaman, S (2025). "A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic epistasis." Nature Genetics.
• Krebs, K, Border, R, Schork, A (2025). "The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory." The American Journal of Human Genetics.
• Van Der Laan, CM, Ip, HF, Schipper, M, …, Border, R, …, Bartels, M, Nivard, MG, Boomsma, DI (2025). "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes." Nature Genetics.
• Fan, CC, Dehkordi, SR, Border, R, …, Zaitlen, N, Buil, A, Wang, S (2025). "Spousal correlations for nine psychiatric disorders are consistent across cultures and persistent over generations." Nature Human Behaviour.
• Wainschtein, P, Zhang, Y, Schwartzentruber, J, …, Border, R, …, Visscher, PM, Farh, KK, Yengo, L (2025). "Estimation and mapping of the missing heritability of human phenotypes." Nature.
• Wei, A, Border, R, Fu, B, …, Ntranos, V, Zaitlen, N, Arboleda, VA (2025). "Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions." Nature Communications.
• Mefford, J, Smullen, M, Zhang, F, Sadowski, M, Border, R, Dahl, A, Flint, J, Zaitlen, N (2025). "Beyond predictive R: Quantile regression and non-equivalence tests reveal complex relationships of traits and polygenic scores." American Journal of Human Genetics.
• Sadowski, M, Thompson, M, Mefford, J, …, Border, R, …, Sankararaman, S, Dahl, A, Zaitlen, N (2024). "Characterizing the genetic architecture of drug response using gene-context interaction methods." Cell Genomics.
• Ma, S, Wang, F, Border, R, Buxbaum, J, Zaitlen, N, Ionita-Laza, I (2024). "Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating." The American Journal of Human Genetics.
• Dybdahl Krebs, M, Georgii Hellberg, K, Lundberg, M, …, Border, R, …, Werge, T, Kendler, KS, Schork, AJ (2024). "Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression." The American Journal of Human Genetics.
• Romero Villela, PN, Evans, LM, Palviainen, T, Border, R, Kaprio, J, Palmer, RH, Keller, MC, Ehringer, MA (2024). "Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in european ancestry individuals." Drug and Alcohol Dependence.
• Dahl, A, Thompson, M, An, U, …, Border, R, …, Sankararaman, S, Kendler, KS, Cai, N (2023). "Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder." Nature Genetics.
• Border, R & Malik, OA (2023). "Rbahadur}: Efficient simulation of structured high-dimensional genotype data with applications to assortative mating." BMC Bioinformatics.
• Border, R, Athanasiadis, G, Buil, A, …, Sankararaman, S, Dahl, AW, Zaitlen, NA (2022). "Cross-trait assortative mating is widespread and inflates genetic correlation estimates." Science.
  - Highlighted by Science, WIRED, The Conversation.
• Jami, ES, Hammerschlag, AR, Ip, HF, …, Border, R, …, Nivard, MG, Bartels, M, Middeldorp, CM (2022). "Genome-wide association meta-analysis of childhood and adolescent internalising symptoms." Journal of the American Academy of Child and Adolescent Psychiatry.
• Border, R, O’Rourke, S, De Candia, T, Goddard, ME, Visscher, PM, Yengo, L, Jones, M, Keller, MC (2022). "Assortative mating biases marker-based heritability estimators." Nature Communications.
• Ip, HF, Van Der Laan, CM, Krapohl, EML, …, Border, R, …, Bartels, M, Nivard, MG, Boomsma, DI (2021). "Genetic association study of childhood aggression across raters, instruments, and age." Translational Psychiatry.
• Adjangba, C, Border, R, Romero Villela, PN, Ehringer, MA, Evans, LM (2021). "Little evidence of modified genetic effect of rs16969968 on heavy smoking based on age of onset of smoking." Nicotine and Tobacco Research.
• Border, R & Becker, S (2019). "Stochastic Lanczos estimation of genomic variance components for linear mixed-effects models." BMC Bioinformatics.
• Border, R, Johnson, EC, Evans, LM, Smolen, A, Berley, N, Sullivan, PF, Keller, MC (2019). "No support for historical candidate gene or candidate gene-by-interaction hypotheses for major depression across multiple large samples." American Journal of Psychiatry.
  - Highlighted by CBC, The Atlantic.
• Border, R, Johnson, EC, Evans, LM, Keller, MC (2019). "Measurement error cannot account for failed replications of historic candidate gene-by-environment hypotheses: Response to Vrshek-Schallhorn et al.." American Journal of Psychiatry.
• Border, R, Smolen, A, Corley, RP, …, Wall, TL, Keller, MC, Evans, LM (2019). "Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals." European Journal of Human Genetics.
• Border, R, Corley, RP, Brown, SA, …, Wall, TL, Woodward, KE, Rhee, SH (2018). "Independent predictors of mortality in adolescents ascertained for conduct disorder and substance use problems, their siblings and community controls." Addiction.
• Border, R, Corley, RP, Brown, SA, …, Wall, TL, Young, SE, Rhee, SH (2018). "Predictors of adult outcomes in clinically- and legally-ascertained youth with externalizing problems." PLOS ONE.
• Johnson, EC, Border, R, Melroy-Greif, WE, De Leeuw, CA, Ehringer, MA, Keller, MC (2017). "No evidence that schizophrenia candidate genes are more associated with schizophrenia than noncandidate genes." Biological Psychiatry.
• Border, R & Keller, MC (2017). "Commentary: Fundamental problems with candidate gene-by-environment interaction studies." Journal of Child Psychology and Psychiatry.

Software

• Border, R. (2023). “xftsim: eXtensible Forward Time SIMulator.”

• Border, R. and Malik, O.A. (2022). “rBahadur: efficient simulation of genotype / phenotype data under assortative mating by generating Bahadur order-2 multivariate Bernoulli distributed random variates.”

Recent presentations

• Border, R.. “Simulation of complex phenogenetic architectures incorporating multivariate assortative mating, vertical transmission, cross-trait causal dependencies, and fine-scale population structure.” Talk presented at the 2023 Probabilistic Modeling in Genomics meeting.

• Wu, Y. and Border, R.. “Emerging topics in biobank-scale association analysis.” Co-moderator of platform-talk at the 2022 annual meeting of the American Society of Human Genetics.

• Border, R., Athanasiadis, G., Buil Demur, A., Schork, A., Cai, N., Young., A., Werge, T., Kendler, K., Flint, J., Dahl, A., Price, A., Zaitlen, N. (2022). “Quantifying the effects of high-dimensional cross-trait assortative mating on complex trait genetic architectures.” Reviewers’ Choice Abstract poster presented at the 2022 annual meeting of the American Society of Human Genetics.

• Border, R., Athanasiadis, G., Buil Demur, A., Schork, A., Werge, T., Kendler, K., Flint, J., Dahl, A., Zaitlen, N. (2021). “Widespread evidence of systematic bias in estimates of genetic correlation due to cross-trait assortative mating.” Plenary talk presented at the 2021 annual meeting of the American Society of Human Genetics.

Recent honors and awards

• Outstanding Mentorship Award. Bruins in Genomics Summer Research Program (2023).

• Reviewers’ Choice Abstract. American Society for Human Genetics (2022).

• Random Matrix Theory and Numerical Linear Algebra Conference Travel Award. National Science Foundation (2022).

• Charles J. Epstein Research Semifinalist Award. American Society for Human Genetics (2021).

Education

• Doctor of Philosophy (2019). Behavioral, Psychiatric, and Statistical Genetics. Advised by Matthew C. Keller. Department of Psychology and Neuroscience, University of Colorado Boulder.

• Master of Science (2018). Applied Mathematics. Advised by Stephen Becker. Department of Applied Mathematics, University of Colorado Boulder.

• Master of Arts (2018). Behavioral, Psychiatric, and Statistical Genetics. Advised by Soo Hyun Rhee. Department of Psychology and Neuroscience, University of Colorado Boulder (2018).

• Bachelor of Arts (2011). Japanese Language and Literature. Advised by Terry Kawashima. Department of East Asian Studies, Wesleyan University.