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

• Border, R., Wang, J., Caggiano, C., Sankararaman, S., Schork, A.J., Turley, P., Young, A.S., Benjamin, D.J., Dahl, A.W., Zaitlen, N.. “Simple models of non-random mating and environmental transmission bias standard human genetics statistical methods”. doi.org/10.1101/2024.10.16.618755

• Fu, B., …, Border, R., …, Sankararaman, S.. “A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic epistasis". doi.org/10.1101/2023.09.10.557084

• Krebs, K.D., …, Border, R., …, Schork, A.J.. “The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory.” Out for review at the American Journal of Human Genetics.

• Medford, J., …, Border, R., …, Zaitlen, N.. “Beyond predictive R-squared: Complex relationships between traits and their corresponding polygenic scores are revealed using non-equivalence tests of quantile-specific linear models.” Invited for resubmission at the American Journal of Human Genetics.

• Tan, T., …, Border, R., …, Young, S.. “Family-GWAS reveals effects of environment and mating on genetic associations.” Invited for resubmission at Nature. doi.org/10.1101/2024.10.01.24314703

• Van der Laan, C.M., …, Border, R., …, Boomsma, D.I.. “Meta-analysis of genome wide association studies on childhood ADHD symptoms and diagnosis reveals 17 novel loci and 22 potential effector genes.” Invited for resubmission at Nature Genetics. doi.org/10.1101/2024.04.17.24305817

• Wei, A., Border, R., …, Arboleda, V.. “The genetic underpinnings of variable penetrance and expressivity of pathogenic mutations in cardiometabolic traits.” Invited for resubmission at Nature Communications. doi.org/10.1101/2023.09.14.23295564

Peer-reviewed publications

• Sadowski, M., …, Border, R., …, Zaitlen, N.. “Characterizing the genetic architecture of drug response using gene-context interaction methods.” Cell Genomics. doi.org/10.1016/j.xgen.2024.100722

• Ma, S., Wang, F., Border, R., Buxbaum, J., Zaitlen, N., Ionita-Laza, I.. “Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating”. The American Journal of Human Genetics

• Krebs, K.D., …, Border, R., …, Schork, A.J. (2024). “PA-FGRS is a novel estimator of pedigree-based genetic liability that complements genotype-based inferences into the genetic architecture of major depressive disorder.” The American Journal of Human Genetics

• Dahl, A., …, Border, R., …, Cai, N. (2023). “Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder.” Nature Genetics.

• Border, R. and Malik, O.A. (2023). “rBahadur: efficient simulation of structured high-dimensional genotype data with applications to assortative mating.” BMC Bioinformatics.

• Border, R., Athanasiadis, G., Build, A., Schork, A., Cai, N., Young, A., Werge, T., Flint, J., Kendler, K., Sankararaman, S., Dahl, A., Zaitlen, N. (2022). “Cross-trait assortative mating is widespread and inflates genetic correlation estimates.” Science.

  • Highlighted by Science, WIRED, and The Conversation.

• Jami, J.S., …, Border, R., …, Middeldorp, C.M. (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, M. E., Visscher, P. M., Yengo, L., Jones, M., Keller, M. C. (2022). “Assortative mating biases marker-based heritability estimates.” Nature Communications.

• Ip, H.F., …, Border, R., …, Boomsma, D. (2021). “Genetic association study of childhood aggression across raters, instruments and age.” Translational Psychiatry.

• Adjangba, C., Border, R., Romero, Villela P.N., Ehringer, M.A., Evans, L.M. (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. and Becker, S. (2019). “Stochastic Lanczos estimation of genomic variance components for linear mixed-effects models.” BMC Bioinformatics.

• Border, R., Johnson, E.C., Evans, L.M., Berley, N., Sullvan, P.F., Keller, M.C. (2019). “No support for historic candidate gene or candidate gene-by-interaction hypotheses for major depression across multiple large samples.” American Journal of Psychiatry.

  • Highlighted by CBC and The Atlantic.

• Border, R., Johnson, E.C., Evans, L.M., Keller, M.C. (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, R., Stallings, M., Brown, S., Conger, R., Derringer, J., Donnellan, B., Haberstick, B., Hewitt, J., Hopfer, C., Krauter, K., McQueen, M., Wall, T., Keller, M., Evans, L. (2019). “Imputation of behavioral candidate gene repeat polymorphisms in 486,551 publicly-available UK Biobank individuals.” European Journal of Human Genetics.

• Border, R., Corley, R.C., Brown, S.A., Hewitt, J.K., Hopfer, C.J., Williams, S.K., Rhea, S., Shriver, C.L., Stallings, M.C., Wall, T.L., Woodward, K.E., Rhee, S.H. (2018). “Independent predictors of mortality in adolescents ascertained for conduct disorder and substance use problems, their siblings, and community controls.” Addiction.

• Border, R., Corley, R.C., Brown, S.A., Hewitt, J.K., Hopfer, C.J., Stallings, M.C., Wall, T.L., Young, S.E., Rhee, S.H. (2018). “Predictors of adult outcomes in clinically- and legally-referred youth with antisocial behavior.” PLOS ONE.

• Johnson, E.C., Border, R., Melroy-Greif, W.E., de Leeuw, C., Ehringer, M.A., Keller, M.C. (2017). “No evidence that schizophrenia candidate genes are more associated with schizophrenia than non-candidate genes.” Biological Psychiatry.

• Border, R. and Keller, M.C. (2017). “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.