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  • 2024

    Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References

    Taylor, D. J., Eizenga, J. M., Li, Q., Das, A., Jenike, K. M., Kenny, E. E., Miga, K. H., Monlong, J., McCoy, R. C., Paten, B. & Schatz, M. C., 27 Aug 2024, In: Annual Review of Genomics and Human Genetics. 25, 1, p. 77-104 28 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    1 Scopus citations
  • Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

    Ramos, M. A., Bonini, K. E., Scarimbolo, L., Kelly, N. R., Insel, B., Suckiel, S. A., Brown, K., Di Biase, M., Gallagher, K. M., Lopez, J., Aguiñiga, K. L., Marathe, P. N., Maria, E., Odgis, J. A., Rodriguez, J. E., Rodriguez, M. A., Ruiz, N., Sebastin, M., Yelton, N. M. & Cunningham-Rundles, C. & 21 others, Gertner, M., Laguerre, I., McDonald, T. V., McGoldrick, P. E., Robinson, M., Rubinstein, A., Shulman, L. H., Williams, T., Wolf, S. M., Yozawitz, E. G., Zinberg, R. E., Abul-Husn, N. S., Bauman, L. J., Diaz, G. A., Ferket, B. S., Greally, J. M., Jobanputra, V., Gelb, B. D., Kenny, E. E., Wasserstein, M. P. & Horowitz, C. R., 5 Dec 2024, In: American Journal of Human Genetics. 111, 12, p. 2607-2617 11 p.

    Research output: Contribution to journalReview articlepeer-review

  • Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network

    Lewis, A. C. F., Chisholm, R. L., Connolly, J. J., Esplin, E. D., Glessner, J., Gordon, A., Green, R. C., Hakonarson, H., Harr, M., Holm, I. A., Jarvik, G. P., Karlson, E., Kenny, E. E., Kottyan, L., Lennon, N., Linder, J. E., Luo, Y., Martin, L. J., Perez, E. & Puckelwartz, M. J. & 8 others, Rasmussen-Torvik, L. J., Sabatello, M., Sharp, R. R., Smoller, J. W., Sterling, R., Terek, S., Wei, W. Q. & Fullerton, S. M., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 999-1005 7 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    2 Scopus citations
  • Principles and methods for transferring polygenic risk scores across global populations

    Kachuri, L., Chatterjee, N., Hirbo, J., Schaid, D. J., Martin, I., Kullo, I. J., Kenny, E. E., Pasaniuc, B., Auer, P. L., Conomos, M. P., Conti, D. V., Ding, Y., Wang, Y., Zhang, H., Zhang, Y., Witte, J. S. & Ge, T., Jan 2024, In: Nature Reviews Genetics. 25, 1, p. 8-25 18 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    51 Scopus citations
  • The PRIMED Consortium: Reducing disparities in polygenic risk assessment

    Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium, 5 Dec 2024, In: American Journal of Human Genetics. 111, 12, p. 2594-2606 13 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
  • 2023

    The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

    NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Apr 2023, In: Science advances. 9, 17, eabm4945.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    4 Scopus citations
  • 2022

    The Human Pangenome Project: a global resource to map genomic diversity

    Human Pangenome Reference Consortium, 1 Apr 2022, In: Nature. 604, 7906, p. 437-446 10 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    190 Scopus citations
  • 2020

    A brief history of human disease genetics

    Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., North, K. N., Plon, S. E., Rehm, H. L., Risch, N., Rotimi, C. N., Shendure, J., Soranzo, N. & McCarthy, M. I., 9 Jan 2020, In: Nature. 577, 7789, p. 179-189 11 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    395 Scopus citations
  • 2019

    Personalized Medicine and the Power of Electronic Health Records

    Abul-Husn, N. S. & Kenny, E. E., 21 Mar 2019, In: Cell. 177, 1, p. 58-69 12 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    206 Scopus citations
  • The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE

    Bien, S. A., Wojcik, G. L., Hodonsky, C. J., Gignoux, C. R., Cheng, I., Matise, T. C., Peters, U., Kenny, E. E. & North, K. E., 31 Aug 2019, In: Annual Review of Genomics and Human Genetics. 20, p. 181-200 20 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    31 Scopus citations
  • 2018

    Genetic diversity in populations across Latin America: implications for population and medical genetic studies

    Belbin, G. M., Nieves-Colón, M. A., Kenny, E. E., Moreno-Estrada, A. & Gignoux, C. R., Dec 2018, In: Current Opinion in Genetics and Development. 53, p. 98-104 7 p.

    Research output: Contribution to journalReview articlepeer-review

    39 Scopus citations
  • 2015

    A global reference for human genetic variation

    Auton, A., Abecasis, G. R., Altshuler, D. M., Durbin, R. M., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D., Hurles, M. E., Knoppers, B. M., Korbel, J. O., Lander, E. S., Lee, C., Lehrach, H. & Mardis, E. R. & 457 others, Marth, G. T., McVean, G. A., Nickerson, D. A., Schmidt, J. P., Sherry, S. T., Wang, J., Wilson, R. K., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Kovar, C., Lee, S., Muzny, D., Reid, J. G., Zhu, Y., Chang, Y., Feng, Q., Fang, X., Guo, X., Jian, M., Jiang, H., Jin, X., Lan, T., Li, G., Li, J., Li, Y., Liu, S., Liu, X., Lu, Y., Ma, X., Tang, M., Wang, B., Wang, G., Wu, H., Wu, R., Xu, X., Yin, Y., Zhang, D., Zhang, W., Zhao, J., Zhao, M., Zheng, X., Gupta, N., Gharani, N., Toji, L. H., Gerry, N. P., Resch, A. M., Barker, J., Clarke, L., Gil, L., Hunt, S. E., Kelman, G., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Roa, A., Smirnov, D., Smith, R. E., Streeter, I., Thormann, A., Toneva, I., Vaughan, B., Zheng-Bradley, X., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Sudbrak, R., Albrecht, M. W., Amstislavskiy, V. S., Borodina, T. A., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M. L., Fulton, L., Ananiev, V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Church, D., Cohen, R., Cook, C., Garner, J., Hefferon, T., Kimelman, M., Liu, C., Lopez, J., Meric, P., O'Sullivan, C., Ostapchuk, Y., Phan, L., Ponomarov, S., Schneider, V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang, H., Balasubramaniam, S., Burton, J., Danecek, P., Keane, T. M., Kolb-Kokocinski, A., McCarthy, S., Stalker, J., Quail, M., Davies, C. J., Gollub, J., Webster, T., Wong, B., Zhan, Y., Campbell, C. L., Kong, Y., Marcketta, A., Yu, F., Antunes, L., Bainbridge, M., Sabo, A., Huang, Z., Coin, L. J. M., Fang, L., Li, Q., Li, Z., Lin, H., Liu, B., Luo, R., Shao, H., Xie, Y., Ye, C., Yu, C., Zhang, F., Zheng, H., Zhu, H., Alkan, C., Dal, E., Kahveci, F., Garrison, E. P., Kural, D., Lee, W. P., Leong, W. F., Stromberg, M., Ward, A. N., Wu, J., Zhang, M., Daly, M. J., DePristo, M. A., Handsaker, R. E., Banks, E., Bhatia, G., Del Angel, G., Genovese, G., Li, H., Kashin, S., McCarroll, S. A., Nemesh, J. C., Poplin, R. E., Yoon, S. C., Lihm, J., Makarov, V., Gottipati, S., Keinan, A., Rodriguez-Flores, J. L., Rausch, T., Fritz, M. H., Stütz, A. M., Beal, K., Datta, A., Herrero, J., Ritchie, G. R. S., Zerbino, D., Sabeti, P. C., Shlyakhter, I., Schaffner, S. F., Vitti, J., Cooper, D. N., Ball, E. V., Stenson, P. D., Barnes, B., Bauer, M., Cheetham, R. K., Cox, A., Eberle, M., Kahn, S., Murray, L., Peden, J., Shaw, R., Kenny, E. E., Batzer, M. A., Konkel, M. K., Walker, J. A., MacArthur, D. G., Lek, M., Herwig, R., Ding, L., Koboldt, D. C., Larson, D., Ye, K., Gravel, S., Swaroop, A., Chew, E., Lappalainen, T., Erlich, Y., Gymrek, M., Willems, T. F., Simpson, J. T., Shriver, M. D., Rosenfeld, J. A., Bustamante, C. D., Montgomery, S. B., De La Vega, F. M., Byrnes, J. K., Carroll, A. W., DeGorter, M. K., Lacroute, P., Maples, B. K., Martin, A. R., Moreno-Estrada, A., Shringarpure, S. S., Zakharia, F., Halperin, E., Baran, Y., Cerveira, E., Hwang, J., Malhotra, A., Plewczynski, D., Radew, K., Romanovitch, M., Zhang, C., Hyland, F. C. L., Craig, D. W., Christoforides, A., Homer, N., Izatt, T., Kurdoglu, A. A., Sinari, S. A., Squire, K., Xiao, C., Sebat, J., Antaki, D., Gujral, M., Noor, A., Ye, K., Burchard, E. G., Hernandez, R. D., Gignoux, C. R., Haussler, D., Katzman, S. J., Kent, W. J., Howie, B., Ruiz-Linares, A., Dermitzakis, E. T., Devine, S. E., Kang, H. M., Kidd, J. M., Blackwell, T., Caron, S., Chen, W., Emery, S., Fritsche, L., Fuchsberger, C., Jun, G., Li, B., Lyons, R., Scheller, C., Sidore, C., Song, S., Sliwerska, E., Taliun, D., Tan, A., Welch, R., Wing, M. K., Zhan, X., Awadalla, P., Hodgkinson, A., Li, Y., Shi, X., Quitadamo, A., Lunter, G., Marchini, J. L., Myers, S., Churchhouse, C., Delaneau, O., Gupta-Hinch, A., Kretzschmar, W., Iqbal, Z., Mathieson, I., Menelaou, A., Rimmer, A., Xifara, D. K., Oleksyk, T. K., Fu, Y., Liu, X., Xiong, M., Jorde, L., Witherspoon, D., Xing, J., Browning, B. L., Browning, S. R., Hormozdiari, F., Sudmant, P. H., Khurana, E., Tyler-Smith, C., Albers, C. A., Ayub, Q., Chen, Y., Colonna, V., Jostins, L., Walter, K., Xue, Y., Gerstein, M. B., Abyzov, A., Balasubramanian, S., Chen, J., Clarke, D., Fu, Y., Harmanci, A. O., Jin, M., Lee, D., Liu, J., Mu, X. J., Zhang, J., Zhang, Y., Hartl, C., Shakir, K., Degenhardt, J., Meiers, S., Raeder, B., Casale, F. P., Stegle, O., Lameijer, E. W., Hall, I., Bafna, V., Michaelson, J., Gardner, E. J., Mills, R. E., Dayama, G., Chen, K., Fan, X., Chong, Z., Chen, T., Chaisson, M. J., Huddleston, J., Malig, M., Nelson, B. J., Parrish, N. F., Blackburne, B., Lindsay, S. J., Ning, Z., Zhang, Y., Lam, H., Sisu, C., Challis, D., Evani, U. S., Lu, J., Nagaswamy, U., Yu, J., Li, W., Habegger, L., Yu, H., Cunningham, F., Dunham, I., Lage, K., Jespersen, J. B., Horn, H., Kim, D., Desalle, R., Narechania, A., Sayres, M. A. W., Mendez, F. L., Poznik, G. D., Underhill, P. A., Mittelman, D., Banerjee, R., Cerezo, M., Fitzgerald, T. W., Louzada, S., Massaia, A., Yang, F., Kalra, D., Hale, W., Dan, X., Barnes, K. C., Beiswanger, C., Cai, H., Cao, H., Henn, B., Jones, D., Kaye, J. S., Kent, A., Kerasidou, A., Mathias, R., Ossorio, P. N., Parker, M., Rotimi, C. N., Royal, C. D., Sandoval, K., Su, Y., Tian, Z., Tishkoff, S., Via, M., Wang, Y., Yang, H., Yang, L., Zhu, J., Bodmer, W., Bedoya, G., Cai, Z., Gao, Y., Chu, J., Peltonen, L., Garcia-Montero, A., Orfao, A., Dutil, J., Martinez-Cruzado, J. C., Mathias, R. A., Hennis, A., Watson, H., McKenzie, C., Qadri, F., LaRocque, R., Deng, X., Asogun, D., Folarin, O., Happi, C., Omoniwa, O., Stremlau, M., Tariyal, R., Jallow, M., Joof, F. S., Corrah, T., Rockett, K., Kwiatkowski, D., Kooner, J., Hien, T. T., Dunstan, S. J., ThuyHang, N., Fonnie, R., Garry, R., Kanneh, L., Moses, L., Schieffelin, J., Grant, D. S., Gallo, C., Poletti, G., Saleheen, D., Rasheed, A., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Vaydylevich, Y., Duncanson, A., Dunn, M. & Schloss, J. A., 30 Sep 2015, In: Nature. 526, 7571, p. 68-74 7 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    11334 Scopus citations
  • 2003

    WormBase: A cross-species database for comparative genomics

    Harris, T. W., Lee, R., Schwarz, E., Bradnam, K., Lawson, D., Chen, W., Blasier, D., Kenny, E., Cunningham, F., Kishore, R., Chan, J., Muller, H. M., Petcherski, A., Thorisson, G., Day, A., Bieri, T., Rogers, A., Chen, C. K., Spieth, J. & Sternberg, P. & 2 others, Durbin, R. & Stein, L. D., 1 Jan 2003, In: Nucleic Acids Research. 31, 1, p. 133-137 5 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    101 Scopus citations