Research Experience
Graduate Student, Harvard Medical School
Principal Investigator: Joel Hirschhorn, M.D., Ph.D., Chief of the Division of Endocrinology,
Boston Children's Hospital
2014 - 2020
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​As a graduate student, I developed extensive skills in programming (Python, R) and bioinformatics. First, I developed EC-DEPICT, a method for gene set enrichment of large genetic data sets. This work culminated in co-first authorship of high-impact genetics papers on height in Nature (coverage in Time Magazine and NPR; >235 citations) and obesity in Nature Genetics (>85 citations). For this project, I collaborated extensively with the GIANT Consortium, which includes hundreds of geneticists in more than twenty countries. EC-DEPICT has now been used in several other major ExomeChip analysis efforts (including papers I've co-authored on waist-hip ratio and adiponectin levels, as well as a few others in prep).
I also created Benchmarker, a novel method for statistical benchmarking of gene prioritization methods for genome-wide association studies. This project was featured in articles in Boston Children's Hospital's Discoveries series and Spectrum News. It was also chosen as 1 of 5 articles included in the Editor's Corner of the journal issue.
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Research Assistant, Yale School of Medicine
Principal Investigator: Hanna Stevens, M.D., Ph.D.
2012 - 2014
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I studied the effects of corticosterone exposure on embryonic interneuron development and the effects of prenatal stress on embryonic microglial development, culminating in a first-author review paper (>60 citations) and a a second-author original research paper.
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Research Assistant, Yale School of Medicine
Principal Investigator: Amy Arnsten, Ph.D.
2011 - 2012
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I studied the molecular basis of working memory and its disruption in psychiatric illness. I co-authored a paper on this work (>30 citations).
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Technical Skills
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Programming languages: Python (e.g. Pandas, NumPy, Matplotlib, SciPy), R (e.g. ggplot2)
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Proficiency in Linux/Unix environments
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Jupyter Notebook
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Experience with development and maintenance of source code repositories (Github)
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Analysis of large-scale data, such as genotypes (e.g. from UK Biobank), DNA sequencing, and single-cell RNA sequencing
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Genetic software (e.g. BOLT-LMM, Plink, LD score regression, MAGMA)
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Dimensionality reduction/classification techniques (principal components analysis, non-negative matrix factorization)
Publications
Find me on Google Scholar!
h-index: 9
>900 citations total
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First Author Publications
(Asterisks denote equal contribution)
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Fine, R.S., Pers, T.H., Amariuta, T., Raychaudhuri, S., Hirschhorn, J.N. (2019). Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms. American Journal of Human Genetics 104(6), 1025-1039. [link] [pdf]
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Turcot, V.*, Lu, Y.*, Highland, H.M.*, Schurmann, C.*, Justice, A.E*., Fine, R.S.*, et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity. Nature Genetics 50, 26–41. [link]​ [pdf]
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Marouli E.*, Graff M.*, Medina-Gomez C.*, Lo K.S.*, Wood A.R.*, Kjaer T.*, Fine R.S.*, Lu Y.* et al. (2017). Rare and low- frequency coding variants alter human adult height. Nature 542, 186-190. [link] [pdf]
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Fine R., Zhang, J., Stevens, H.E. (2014). Prenatal stress and inhibitory neuron systems: implications for psychiatric disorders. Molecular Psychiatry 19, 641-651. [link] [pdf]
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Additional Publications​
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Graff, M., Justice, A.E., Young K.L., Marouli, E., Zhang, X., Fine, R.S. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry (2021). American Journal of Human Genetics 108 (4), 564-582. [link]
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Yaghootkar, H.*, Zhang, Y.*, Spracklen, C.N., Karaderi, T., Huang, O.L., Bradfield, J., Schurmann, C., Fine, R.S. et al. (2020). Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity. Diabetes 69 (12), 2806-2818. [link]
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Weeks, E.M., Ulirsch, J.C., Cheng N.Y., Trippe B.L., Fine, R.S., et al. (2020) Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases. MedRxiv. [link]
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Ng, N.H.J.*, Willems, S.*, Fernandez, J., Fine, R.S., Wheeler, E., Wessel, J. et al. (2019). Tissue-specific alteration of metabolic pathways influences glycemic regulation. BioRxiv. [link]
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Spracklen, C.N.*, Karaderi, T.*, Yaghootkar, H., Schurmann, C., Fine, R.S. et al. (2019). Novel adiponectin-associated variants implicate new obesity and lipid biology. American Journal of Human Genetics, 105(1), 15-28. [link] [pdf]
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Justice, A.E.*, Karaderi, T.*, Highland H.M.*, Young K.L.*, Graff M.*, Lu, Y., Turcot, V., Auer, P.L., Fine R.S. et al. (2019). Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body fat distribution. Nature Genetics 51, 452-469. [link] [pdf]
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Gumusoglu, S.B., Fine, R.S., Murray, S.J., Bittle, J.L. & Stevens, H.E. (2017). Interleukin-6 mediation of behavioral and neurodevelopmental effects of prenatal stress. Brain, Behavior, and Immunity 65, 274-283. [link] [pdf]
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Gamo, N., Duque, A., Paspalas, C., Kata, A. Fine, R., Boven, L., Bryan, C., Lo, T., Anighoro, K., Bermudez, L., Peng, K., Annor, A., Raja, A., Mansson, E., Taylor, S., Patel, K., Simen, A. & Arnsten, A. (2013). Role of Disrupted in Schizophrenia 1 (DISC1) in stress-induced prefrontal cognitive dysfunction. Translational Psychiatry 3(12), e328. [link] [pdf]