Biomedical and Translational Informatics Laboratory

  • Wang, X., Feng, Y., Tong, B., Bao, J., Ritchie, M. D., Saykin, A. J., Moore, J. H., Urbanowicz, R., & Shen, L. (2023, June 16). Exploring automated machine learning for cognitive outcome prediction from multimodal brain imaging using Streamline. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283099/
  • Singhal, P., Guare, L., Morse, C., Lucas, A., Byrska-Bishop, M., Guerraty, M. A., Kim, D., Ritchie, M. D., & Verma, A. (2023, June 16). Detect: Feature extraction method for disease trajectory modeling in electronic health records. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283148/
  • Tong, B., Risacher, S. L., Bao, J., Feng, Y., Wang, X., Ritchie, M. D., Moore, J. H., Urbanowicz, R., Saykin, A. J., & Shen, L. (2023, June 16). Comparing amyloid imaging normalization strategies for alzheimer’s disease classification using an Automated Machine Learning Pipeline. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283108/
  • Levin, M.G., Huffman, J.E., Verma, A. et al. Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease. Nat Cardiovasc Res 2, 44–57 (2023). https://doi.org/10.1038/s44161-022-00196-5
  • Hoffecker, G., Varughese, L. A., Bleznuck, J., Landgraf, J., Wollack, C., Chen, J., Ritchie, M. D., Nathanson, K. L., & Tuteja, S. (2023). Customizing the electronic health record for delivery of pharmacogenetics. Genetics in Medicine Open, 1(1). https://doi.org/10.1016/j.gimo.2023.100779
  • Sangkuhl, K., Whaley, R., Woon, M., Keat, K., Gong, L., Whirl-Carrillo, M., Ritchie, M., & Klein, T. (2023). P662: Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT. Genetics in Medicine Open, 1(1). https://doi.org/10.1016/j.gimo.2023.100727
  • Yang, X., Li, B., Fan, Z., Ding, D., Shu, J., Ritchie, M. D., Nave, G., Platt, M. L., Li, T., Zhu, H., & Zhao, B. (2023). Developing and Sharing Polygenic Risk Scores for 4,206 Brain Imaging-Derived Phenotypes for 400,000 UK Biobank Subjects Not Participating in the Imaging Study. https://doi.org/10.1101/2023.04.18.23288769
  • Hui, D., Dudek, S., Kiryluk, K., Walunas, T. L., Kullo, I. J., Wei, W.-Q., Tiwari, H. K., Peterson, J. F., Chung, W. K., Davis, B., Khan, A., Kottyan, L., Limdi, N. A., Feng, Q., Puckelwartz, M. J., Weng, C., Smith, J. L., Karlson, E. W., Center, R. G., … Ritchie, M. D. (2023). Risk Factors Affecting Polygenic Score Performance across Diverse Cohorts. https://doi.org/10.1101/2023.05.10.23289777
  • Safonov, A., Nomakuchi, T. T., Chao, E., Horton, C., Dolinsky, J. S., Yussuf, A., Richardson, M., Speare, V., Li, S., Bogus, Z. C., Bonanni, M., Raper, A., Kallish, S., Ritchie, M. D., Nathanson, K. L., & Drivas, T. G. (2023). A genotype-first approach identifies high incidence of nf1 pathogenic variants with distinct disease associations. Medrxiv. https://doi.org/10.1101/2023.08.08.23293676
  • Ferar, K., Ferar, T. O., Hall, D. C., Crawford, R., Rowley, B. A., Satterfield, R., Li, L., Gragert, E. W., Karlson, M., de Andrade, I. J., Kullo, C. A., McCarty, A., Kho, M. G., Hayes, M. D., Ritchie, P. K., Crane, D. B., Mirel, C., Carlson, J. J., Connolly, H., … Crenshaw, D. (2023). Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Scientific Reports., 13(1). https://doi.org/10.1038/s41598-023-47359-3
  • Cardone, K. M., Dudek, S., Keat, K., Bradford, Y., Cindi, Z., Daar, E. S., Gulick, R., Riddler, S. A., Lennox, J. L., Sinxadi, P., Haas, D. W., & Ritchie, M. D. (2023). Lymphocyte count derived polygenic score and interindividual variability in CD4 T-cell recovery in response to antiretroviral therapy. Biocomputing 2024. https://doi.org/10.1142/9789811286421_0045
  • Kember, R. L., Verma, S. S., Verma, A., Xiao, B., Lucas, A., Kripke, C. M., Judy, R., Chen, J., Damrauer, S. M., Rader, D. J., & Ritchie, M. D. (2023). Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine. Biocomputing 2024. https://doi.org/10.1142/9789811286421_0046
  • Hui, D., Mehrabi, S., Quimby, A. E., Chen, T., Chen, S., Park, J., Li, B., Ruckenstein, M. J., Rader, D. J., Ritchie, M. D., Brant, J. A., Epstein, D. J., & Mathieson, I. (2023). Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort. PLOS Genetics, 19(1). https://doi.org/10.1371/journal.pgen.1010584
  • Xiao, B., Velez Edwards, D. R., Lucas, A., Drivas, T., Gray, K., Keating, B., Weng, C., Jarvik, G. P., Hakonarson, H., Kottyan, L., Elhadad, N., Wei, W., Luo, Y., Kim, D., Ritchie, M., Verma, S. S., Abecasis, G., Baras, A., Cantor, M., … Rana, N. (2023). Inference of causal relationships between genetic risk factors for cardiometabolic phenotypes and female‐specific health conditions. Journal of the American Heart Association, 12(5). https://doi.org/10.1161/jaha.121.026561
  • Small, A. M., Peloso, G. M., Linefsky, J., Aragam, J., Galloway, A., Tanukonda, V., Wang, L.-C., Yu, Z., Sunitha Selvaraj, M., Farber-Eger, E. H., Baker, M. T., Setia-Verma, S., Lee, S. S. K., Preuss, M., Ritchie, M. D., Damrauer, S. M., Rader, D. J., Wells, Q. S., Loos, R., … O’Donnell, C. J. (2023). Multiancestry genome-wide association study of aortic stenosis identifies multiple novel loci in the million veteran program. Circulation, 147(12), 942–955. https://doi.org/10.1161/circulationaha.122.061451
  • Suzuki, K., Hatzikotoulas, K., Southam, L., Taylor, H. J., Yin, X., Lorenz, K. M., Mandla, R., Huerta-Chagoya, A., Rayner, N. W., Bocher, O., Ana Luiza de, S. V., Sonehara, K., Namba, S., Lee, S. S., Preuss, M. H., Petty, L. E., Schroeder, P., Vanderwerff, B., Kals, M., … Zeggini, E. (2023). Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. Medrxiv. https://doi.org/10.1101/2023.03.31.23287839
  • Singhal, P., Veturi, Y., Dudek, S. M., Lucas, A., Frase, A., van Steen, K., Schrodi, S. J., Fasel, D., Weng, C., Pendergrass, R., Schaid, D. J., Kullo, I. J., Dikilitas, O., Sleiman, P. M. A., Hakonarson, H., Moore, J. H., Williams, S. M., Ritchie, M. D., & Verma, S. S. (2023). Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and emerge datasets. The American Journal of Human Genetics, 110(4), 575–591. https://doi.org/10.1016/j.ajhg.2023.03.007
  • Wen, J., Zhao, B., Yang, Z., Erus, G., Skampardoni, I., Mamourian, E., Cui, Y., Hwang, G., Bao, J., Boquet-Pujadas, A., Zhou, Z., Veturi, Y., Ritchie, M. D., Shou, H., Thompson, P. M., Shen, L., Toga, A. W., & Davatzikos, C. (2023). The Genetic Architecture of Multimodal Human Brain Age. Biorxiv. https://doi.org/10.1101/2023.04.13.536818
  • Dwyer, D.B., Chand, G.B., Pigoni, A. et al. Psychosis brain subtypes validated in first-episode cohorts and related to illness remission: results from the PHENOM consortium. Mol Psychiatry 28, 2008–2017 (2023). https://doi.org/10.1038/s41380-023-02069-0
  • Verma, S. S., Guare, L., Ehsan, S., Gastounioti, A., Scales, G., Ritchie, M. D., Kontos, D., & McCarthy, A. M. (2023). Genome-wide association study of breast density among women of African ancestry. Cancers, 15(10), 2776. https://doi.org/10.3390/cancers15102776
  • Graham, S. E., Clarke, S. L., Wu, K.-H. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Hwang, M. Y., Han, S., Narita, A., Choudhury, A., Bentley, A. R., Ekoru, K., Verma, A., & Trivedi, B. (2023). Author Correction: The power of genetic diversity in genome-wide association studies of lipids. Nature., 618(7965), E19–E20. https://doi.org/10.1038/s41586-023-06194-2
  • Cindi, Z., Kawuma, A. N., Maartens, G., Bradford, Y., Sokhela, S., Chandiwana, N., Venter, W. D., Wasmann, R. E., Denti, P., Wiesner, L., Ritchie, M. D., Haas, D. W., & Sinxadi, P. (2023). Pharmacogenetics of tenofovir clearance among southern Africans living with HIV. Pharmacogenetics and Genomics, 33(4), 79–87. https://doi.org/10.1097/fpc.0000000000000495
  • Verma, S., Bradford, Y., Vrathasha, V., Salowe, R, Ritchie, M., O’Brien, J. (2023). Trait colocalization approach to interpreting the biological significance of primary open-angle glaucoma (POAG) GWAS loci in individuals of African ancestry. Investigative Ophthalmology & Visual Science., 64(8).
  • Graham, S.E., Clarke, S.L., Wu, KH.H. et al. Author Correction: The power of genetic diversity in genome-wide association studies of lipids. Nature 618, E19–E20 (2023). https://doi.org/10.1038/s41586-023-06194-2
  • Klarin, D., Devineni, P., Sendamarai, A.K. et al. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program. Nat Genet 55, 1106–1115 (2023). https://doi.org/10.1038/s41588-023-01420-z
  • Mateza, S., Bradford, Y., Maartens, G., Sokhela, S., Chandiwana, N. C., Venter, W. D. F., Post, F. A., Ritchie, M. D., Haas, D. W., & Sinxadi, P. (2023). Pharmacogenetics of tenofovir renal toxicity in HIV-positive southern Africans. Pharmacogenetics and Genomics, 33(5), 91–100. https://doi.org/10.1097/fpc.0000000000000491
  • Zaidi, A. A., Verma, A., Morse, C., Ritchie, M. D., & Mathieson, I. (2023). The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort. HGG Advances., 4(3). https://doi.org/10.1016/j.xhgg.2023.100202
  • Kumar, R., Romano, J., Ritchie, M., & Moore, J. (2023). Extending Tree-Based Automated Machine Learning to Biomedical Image and Text Data Using Custom Feature Extractors. Proceedings of the Companion Conference on Genetic and Evolutionary Computation /, 1–602. https://doi.org/10.1145/3583133.3590584
  • Lee, D. S. M., Cardone, K. M., Zhang, D. Y., Abramowitz, S., DePaolo, J. S., Aragam, K. G., Biddinger, K., Conery, M., Dilitikas, O., Hoffman-Andrews, L., Judy, R. L., Khan, A., Kulo, I., Puckelwartz, M. J., Reza, N., Satterfield, B. A., Singhal, P., Arany, Z. P., Cappola, T. P., … Damrauer, S. M. (2023). Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum. Medrxiv. https://doi.org/10.1101/2023.07.16.23292724
  • Reza, N., Levin, M. G., Vidula, M. K., Bravo, P. E., Damrauer, S. M., Ritchie, M. D., Chahal, C. A. A., & Owens, A. T. (2023). Prevalence of Pathogenic Variants in Dilated Cardiomyopathy–Associated Genes in Patients Evaluated for Cardiac Sarcoidosis. Circulation., 16(4), 409–411. https://doi.org/10.1161/CIRCGEN.122.003850
  • Singhal, P., Verma, S. S., & Ritchie, M. D. (2023). Gene Interactions in Human Disease Studies—Evidence Is Mounting. Annual Review of Biomedical Data Science., 6(1), 377–395. https://doi.org/10.1146/annurev-biodatasci-102022-120818
  • Singhal, P., Tan, A., Drivas, T., Johnson, K., Ritchie, M., & Beaulieu-Jones, B. (2023). Opportunities and challenges for biomarker discovery using electronic health record data. Trends in Molecular Medicine, 29(9), 765–776. https://doi.org/10.1016/j.molmed.2023.06.006
  • Raizen, D. M., Mullington, J., Anaclet, C., Clarke, G., Critchley, H., Dantzer, R., Davis, R., Drew, K. L., Fessel, J., Fuller, P. M., Gibson, E. M., Harrington, M., Ian Lipkin, W., Klerman, E. B., Klimas, N., Komaroff, A. L., Koroshetz, W., Krupp, L., Kuppuswamy, A., & Lasselin, J. (2023). Beyond the symptom: the biology of fatigue. Sleep., 46(9). https://doi.org/10.1093/sleep/zsad069
  • Pividori, M., Lu, S., Li, B. et al. Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms. Nat Commun 14, 5562 (2023). https://doi.org/10.1038/s41467-023-41057-4
  • Yang, G., González, P., Moneró, M., Carrasquillo, K., Renta, J. Y., Hernandez-Suarez, D. F., Botton, M. R., Melin, K., Scott, S. A., Ruaño, G., Roche-Lima, A., Alarcon, C., Ritchie, M. D., Perera, M. A., & Duconge, J. (2023). Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics. Medrxiv. https://doi.org/10.1101/2023.09.29.23296372
  • Li, B., Li, K., Sangkuhl, R., Whaley, M., Woon, K., Keat, M., Whirl-Carrillo, M. D., & Ritchie, T. E. (2023). Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank. American Journal of Human Genetics., 110(10), 1628–1647. https://doi.org/10.1016/j.ajhg.2023.09.001
  • Ferar, K., Hall, T. O., Crawford, D. C., Rowley, R., Satterfield, B. A., Li, R., Gragert, L., Karlson, E. W., de Andrade, M., Kullo, I. J., McCarty, C. A., Kho, A., Hayes, M. G., Ritchie, M. D., Crane, P. K., Mirel, D. B., Carlson, C., Connolly, J. J., Hakonarson, H., & Crenshaw, A. T. (2023). Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Scientific Reports., 13(1). https://doi.org/10.1038/s41598-023-45649-4
  • Truong, V., Lee, M., Kim, D., Wherry, J., & Ritchie, M. (2023, October 28). Immunology meets Artificial Intelligence: Expanding our scientific... OpenReview. https://openreview.net/forum?id=bx2vpeOUSO&noteId=e1BbGI0FOM
  • Roychowdhury, T., Klarin, D., Levin, M.G. et al. Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target. Nat Genet 55, 1831–1842 (2023). https://doi.org/10.1038/s41588-023-01510-y
  • Moore, A., & Ritchie, M. D. (2023). Cross-phenotype associations between alzheimer’s disease and its comorbidities may provide clues to progression. Medrxiv. https://doi.org/10.1101/2023.11.06.23297993
  • Lee, B. N., Bao, J., Tong, B., Risacher, S. L., Saykin, A. J., Moore, J. H., Kim, D., Davatzikos, C., Long, Q., Ritchie, M. D., & Shen, L. (2023). Mediation Analysis Identifies Amyloid Imaging Genetic Patterns for Cognitive Outcomes in Alzheimer’s Disease. Alzheimer’s & Dementia : The Journal of the Alzheimer’s Association., 19(S17). https://doi.org/10.1002/alz.078634
  • Wen, J., Nasrallah, I. M., Abdulkadir, A., Satterthwaite, T. D., Yang, Z., Erus, G., Robert-Fitzgerald, T., Singh, A., Sotiras, A., Boquet-Pujadas, A., Mamourian, E., Doshi, J., Cui, Y., Srinivasan, D., Skampardoni, I., Chen, J., Hwang, G., Bergman, M., Bao, J., & Veturi, Y. (2023). Genomic loci influence patterns of structural covariance in the human brain. Proceedings of the National Academy of Sciences of the United States of America., 120(52). https://doi.org/10.1073/pnas.2300842120