Biomedical and Translational Informatics Laboratory

  • Leonard, M. A., Cindi, Z., Bradford, Y., Bourgi, K., Koethe, J., Turner, M., Norwood, J., Woodward, B., Erdem, H., Basham, R., Baker, P., Rebeiro, P. F., Sterling, T. R., Hulgan, T., Daar, E. S., Gulick, R., Riddler, S. A., Sinxadi, P., Ritchie, M. D., & Haas, D. W. (2020). Efavirenz pharmacogenetics and weight gain following switch to integrase inhibitor–containing regimens. Clinical Infectious Diseases, 73(7). https://doi.org/10.1093/cid/ciaa1219
  • Kosmicki, J. A., Horowitz, J. E., Banerjee, N., Lanche, R., Marcketta, A., Maxwell, E., Bai, X., Sun, D., Backman, J. D., Sharma, D., Kang, H. M., O’Dushlaine, C., Yadav, A., Mansfield, A. J., Li, A. H., Watanabe, K., Gurski, L., McCarthy, S. E., Locke, A. E., … Ferreira, M. A. (2020). A catalog of associations between rare coding variants and COVID-19 outcomes. Medrxiv. https://doi.org/10.1101/2020.10.28.20221804
  • Horowitz, J. E., Kosmicki, J. A., Damask, A., Sharma, D., Roberts, G. H., 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., … Ferreira, M. A. (2020). Genome-wide analysis in 756,646 individuals provides first genetic evidence that ace2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease. Medrxiv. https://doi.org/10.1101/2020.12.14.20248176
  • Glessner, J. T., Li, J., Desai, A., Palmer, M., Kim, D., Lucas, A. M., Chang, X., Connolly, J. J., Almoguera, B., Harley, J. B., Jarvik, G. P., Ritchie, M. D., Sleiman, P. M., Roden, D. M., Crosslin, D., & Hakonarson, H. (2020). CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. International Journal of Cardiology., 298, 107–113. https://doi.org/10.1016/j.ijcard.2019.07.058
  • Park, J., Levin, M. G., Haggerty, C. M., Hartzel, D. N., Judy, R., Kember, R. L., Reza, N., Ritchie, M. D., Owens, A. T., Damrauer, S. M., & Rader, D. J. (2020). A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes. Genetics in Medicine : Official Journal of the American College of Medical Genetics., 22(1), 102–111. https://doi.org/10.1038/s41436-019-0625-8
  • Horowitz, J. E., Kosmicki, J. A., Damask, A., Sharma, D., Roberts, G. H., 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., … Ferreira, M. A. (2020). Genome-wide analysis provides genetic evidence that Ace2 influences COVID-19 risk and yields risk scores associated with severe disease. Nature Genetics, 54(4), 382–392. https://doi.org/10.1038/s41588-021-01006-7
  • Kosmicki, J. A., Horowitz, J. E., Banerjee, N., Lanche, R., Marcketta, A., Maxwell, E., Bai, X., Sun, D., Backman, J. D., Sharma, D., Kang, H. M., O’Dushlaine, C., Yadav, A., Mansfield, A. J., Li, A. H., Watanabe, K., Gurski, L., McCarthy, S. E., Locke, A. E., … Ferreira, M. A. (2020). Genetic association analysis of SARS-COV-2 infection in 455,838 UK Biobank participants. Pesquisa. https://pesquisa.bvsalud.org/portal/resource/pt/ppmedrxiv-20221804
  • Sun, L., Sanjna, S., Le, A., Desai, H., Doucette, A., Gabriel, P., Ritchie, M., Rader, D., Maillard, I., Bange, E., Huang, A., Vonderheide, R. H., DeMichele, A., Verma, A., Mamtani, R., & Maxwell, K. N. (2020). Rates of covid-19-related outcomes in cancer compared to non-cancer patients (preprint). Pesquisa. https://pesquisa.bvsalud.org/global-literature-on-novel-coronavirus-2019-ncov/resource/ar/ppmedrxiv-20174961
  • Horowitz, J. E., Kosmicki, J. A., Damask, A., Sharma, D., Roberts, G. H. L., Justice, A. 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., … Ferreira, M. A. (2020). Common genetic variants identify therapeutic targets for covid-19 and individuals at high risk of severe disease (preprint). Pesquisa. https://pesquisa.bvsalud.org/global-literature-on-novel-coronavirus-2019-ncov/resource/pt/ppmedrxiv-20248176?lang=en
  • Gudiseva, H. V., Verma, S. S., Chavali, V. R., Salowe, R. J., Lucas, A., Collins, D. W., Rathi, S., He, J., Lee, R., Merriam, S., Bowman, A. S., McHugh, C. P., Zody, M. C., Pistilli, M., Khachataryan, N., Daniel, E., Murphy, W., Weiner, M., Henderer, J., … O’Brien, J. M. (2020). Genome wide-association study identifies novel loci in the primary open-angle African American Glaucoma Genetics (POAAGG) study. Biorxiv. https://doi.org/10.1101/2020.02.27.968156
  • Erlandson, K. M., Bradford, Y., Samuels, D. C., Brown, T. T., Sun, J., Wu, K., Tassiopoulos, K., Ritchie, M. D., Haas, D. W., & Hulgan, T. (2020). Mitochondrial DNA haplogroups and frailty in adults living with HIV. AIDS Research and Human Retroviruses, 36(3), 214–219. https://doi.org/10.1089/aid.2019.0233
  • Joo, Y. Y., Actkins, K., Pacheco, J. A., Basile, A. O., Carroll, R., Crosslin, D. R., Day, F., Denny, J. C., Velez Edwards, D. R., Hakonarson, H., Harley, J. B., Hebbring, S. J., Ho, K., Jarvik, G. P., Jones, M., Karaderi, T., Mentch, F. D., Meun, C., Namjou, B., … Welt, C. K. (2020). A polygenic and phenotypic risk prediction for polycystic ovary syndrome evaluated by phenome-wide association studies. The Journal of Clinical Endocrinology & Metabolism, 105(6), 1918–1936. https://doi.org/10.1210/clinem/dgz326
  • Tcheandjieu, C., Xiao, K., Tejeda, H., Lynch, J., Ruotsalainen, S., Bellomo, T., Palnati, M., Judy, R., Kember, R., Klarin, D., Kember, R., Verma, S., Palotie, A., Daly, M., Ritchie, M., Rader, D., Rivas, M. A., Assimes, T., Tsao, P., … Priest, J. (2020). High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease. Medrxiv. https://doi.org/10.1101/2020.05.29.20102335
  • Murray, M. F., Kenny, E. E., Ritchie, M. D., Rader, D. J., Bale, A. E., Giovanni, M. A., & Abul-Husn, N. S. (2020). COVID-19 outcomes and the human genome. Genetics in Medicine : Official Journal of the American College of Medical Genetics., 22(7), 1175–1177. https://doi.org/10.1038/s41436-020-0832-3
  • Zhang. (2020). Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and central nervous system disorders. Genetic Epidemiology., 44(5).
  • Sin-Chan, P., Gosalia, N., Gao, C., Van Hout, C. V., Ye, B., Marcketta, A., Li, A. H., O’Dushlaine, C., Li, D., Overton, J. D., Reid, J. D., Baras, A., Carey, D. J., Ledbetter, D. H., Rader, D., Ritchie, M. D., Damrauer, S. M., Milman, S., Barzilai, N., … Shuldiner, A. R. (2020). Exome-wide association studies in general and long-lived populations identify genetic variants related to human age. Biorxiv. https://doi.org/10.1101/2020.07.19.188789
  • Li, R., Chen, Y., Ritchie, M.D. et al. Electronic health records and polygenic risk scores for predicting disease risk. Nat Rev Genet 21, 493–502 (2020). https://doi.org/10.1038/s41576-020-0224-1
  • Bergmeijer, T., Yasmina, A., Vos, G., Janssen, P., Hackeng, C., Kelder, J., Verma, S., Ritchie, M., Gong, L., Klein, T., de Boer, A., Klungel, O., ten Berg, J., & Deneer, V. (2020). Effect of CYP3A4*22 and PPAR-α Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutaneous Coronary Intervention. Genes., 11(9). https://doi.org/10.3390/genes11091068
  • Levin, M. G., Judy, R., Gill, D., Vujkovic, M., Verma, S. S., Bradford, Y., Ritchie, M. D., Hyman, M. C., Nazarian, S., Rader, D. J., Voight, B. F., & Damrauer, S. M. (2020). Genetics of height and risk of atrial fibrillation: A Mendelian randomization study. PLOS Medicine, 17(10). https://doi.org/10.1371/journal.pmed.1003288
  • Klarin, D., Verma, S. S., Judy, R., Dikilitas, O., Wolford, B. N., Paranjpe, I., Levin, M. G., Pan, C., Tcheandjieu, C., Spin, J. M., Lynch, J., Assimes, T. L., Åldstedt Nyrønning, L., Mattsson, E., Edwards, T. L., Denny, J., Larson, E., Lee, M. T., Carrell, D., … Striker, R. (2020). Genetic architecture of abdominal aortic aneurysm in the million veteran program. Circulation, 142(17), 1633–1646. https://doi.org/10.1161/circulationaha.120.047544
  • Verma, S. S., Bergmeijer, T. O., Gong, L., Reny, J., Lewis, J. P., Mitchell, B. D., Alexopoulos, D., Aradi, D., Altman, R. B., Bliden, K., Bradford, Y., Campo, G., Chang, K., Cleator, J. H., Déry, J., Dridi, N. P., Fernandez‐Cadenas, I., Fontana, P., Gawaz, M., … Ritchie, M. D. (2020). Genomewide Association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: A study by the International Clopidogrel Pharmacogenomics Consortium. Clinical Pharmacology & Therapeutics, 108(5), 1067–1077. https://doi.org/10.1002/cpt.1911
  • Moore, J.H., Barnett, I., Boland, M.R. et al. Ideas for how informaticians can get involved with COVID-19 research. BioData Mining 13, 3 (2020). https://doi.org/10.1186/s13040-020-00213-y
  • Ritchie, M. D., Moore, J. H., & Kim, J. H. (2020). Translational Bioinformatics: Biobanks in the Precision Medicine Era. Pacific Symposium on Biocomputing 2020 : Kohala Coast, Hawaii, USA, 3-7 January 2020 /, 743–747. https://doi.org/10.1142/9789811215636_0067