Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
1976 …2024

Research activity per year

Personal profile

Research Interests

A primary goal of my work is to establish the approaches and benefits of genomics informed personalized medicine. A key element of this is participation in the eMERGE consortium (http://gwas.net), where I serve as the steering committee chair. This project uses Electronic Health Records linked biobank samples (www.nugene.org) to study the genetics of disease susceptibility, therapeutic outcomes and pharmacogenomics. My group is also interested in genome informatics, particularly genome annotation and visualization technology.

Training Experience

1984Postdoctoral Fellowship, Massachusetts Institute of Technology

Education/Academic qualification

PhD, Microbiology, University of Michigan

… → 1980

Research interests keywords

  • Bioinformatics
  • Biotechnology
  • Cell Biology
  • Cytoskeleton
  • Genetics
  • Genomics

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Collaborations and top research areas from the last five years

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  • A genomic mutational constraint map using variation in 76,156 human genomes

    Genome Aggregation Database Consortium, Jan 4 2024, In: Nature. 625, 7993, p. 92-100 9 p.

    Research output: Contribution to journalArticlepeer-review

    109 Scopus citations
  • Open Access
    3 Scopus citations
  • Genetic sex validation for sample tracking in next-generation sequencing clinical testing

    the eMERGE III consortium, Dec 2024, In: BMC Research Notes. 17, 1, 62.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Inferring compound heterozygosity from large-scale exome sequencing data

    Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Abreu, M., Salinas, C. A. A., Ahmad, T., Albert, C. M., Alföldi, J., Ardissino, D., Armean, I. M., Atzmon, G., Banks, E. & Barnard, J. & 212 others, Baxter, S. M., Beaugerie, L., Benjamin, E. J., Benjamin, D., Bergelson, L., Boehnke, M., Bonnycastle, L. L., Bottinger, E. P., Bowden, D. W., Bown, M. J., Brant, S., Calvo, S. E., Campos, H., Chambers, J. C., Chan, J. C., Chao, K. R., Chapman, S., Chasman, D., Chen, S., Chisholm, R. L., Cho, J., Chowdhury, R., Chung, M. K., Chung, W. K., Cibulskis, K., Cohen, B., Collins, R. L., Connolly, K. M., Correa, A., Covarrubias, M., Cummings, B., Dabelea, D., Danesh, J., Darbar, D., Denny, J., Donnelly, S., Duggirala, R., Dupuis, J., Ellinor, P. T., Elosua, R., Emery, J., England, E., Erdmann, J., Esko, T., Evangelista, E., Farjoun, Y., Fatkin, D., Ferriera, S., Florez, J., Franke, A., Färkkilä, M., Gabriel, S., Garimella, K., Gauthier, L. D., Gentry, J., Getz, G., Glahn, D. C., Glaser, B., Glatt, S. J., Goldstein, D., Gonzalez, C., Groop, L., Gudmundsson, S., Gupta, N., Haessly, A., Haiman, C., Hall, I., Hanis, C., Harms, M., Hiltunen, M., Holi, M. M., Hultman, C. M., Jalas, C., Jeandet, T., Kallela, M., Kaplan, D., Kaprio, J., Kathiresan, S., Kenny, E., Kim, B. J., Kim, Y. J., Kirov, G., Koenig, Z., Kooner, J., Koskinen, S., Krumholz, H. M., Kugathasan, S., Kwak, S. H., Laakso, M., Lake, N., Langsford, T., Laricchia, K. M., Lehtimäki, T., Lek, M., Lipscomb, E., Llanwarne, C., Loos, R. J. F., Lubitz, S. A., Luna, T. T., Ma, R. C. W., Marcus, G. M., Marrugat, J., Martin, A. R., Mattila, K. M., McCarroll, S., McCarthy, M. I., McCauley, J., McGovern, D., McPherson, R., Meigs, J. B., Melander, O., Metspalu, A., Meyers, D., Minikel, E. V., Mitchell, B. D., Mootha, V. K., Munshi, R., Naheed, A., Nazarian, S., Nilsson, P. M., Novod, S., O’Donnell-Luria, A. H., O’Donovan, M. C., Okada, Y., Ongur, D., Orozco, L., Owen, M. J., Palmer, C., Palmer, N. D., Palotie, A., Park, K. S., Pato, C., Petrillo, N., Phu, W., Poterba, T., Pulver, A. E., Rader, D., Rahman, N., Reiner, A., Remes, A. M., Rhodes, D., Rich, S., Rioux, J. D., Ripatti, S., Roazen, D., Roden, D. M., Rotter, J. I., Ruano-Rubio, V., Sahakian, N., Saleheen, D., Salomaa, V., Saltzman, A., Samani, N. J., Scharf, J., Schleicher, M., Schunkert, H., Schönherr, S., Seaby, E., Seed, C., Shah, S. H., Shand, M., Shoemaker, M. B., Shyong, T., Silverman, E. K., Sklar, P., Smith, J. G., Smith, J. T., Soininen, H., Sokol, H., Son, R. G., Soto, J., Spector, T., Stevens, C., Stitziel, N., Sullivan, P. F., Suvisaari, J., Tai, E. S., Talkowski, M. E., Tarasova, Y., Taylor, K. D., Teo, Y. Y., Tibbetts, K., Tolonen, C., Tsuang, M., Tuomi, T., Turner, D., Tusie-Luna, T., Vartiainen, E., Vawter, M., Vittal, C., Wade, G., Wang, A., Wang, Q., Ware, J. S., Watkins, H., Weersma, R. K., Weisburd, B., Wessman, M., Whiffin, N., Wilson, M. W., Wilson, J. G., Xavier, R. J., Yohannes, M. T., Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H. L., Daly, M. J., O’Donnell-Luria, A., Karczewski, K. J., MacArthur, D. G. & Samocha, K. E., Jan 2024, In: Nature Genetics. 56, 1, p. 152-161 10 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • 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., Jun 6 2024, In: American journal of human genetics. 111, 6, p. 999-1005 7 p.

    Research output: Contribution to journalReview articlepeer-review