Projects per year
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- 1 Similar Profiles
Collaborations and top research areas from the last five years
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The Data, Evaluation, and Coordination Center (DECC) for Connecting Underrepresented Populations to Clinical Trials (CUSP2CT)
Odedina, F. (PI), Le-Rademacher, J. (CoPI), Shi, Q. Q. (CoPI), Freimuth, R. (CoPI) & Liu, H. H. (CoPI)
9/16/22 → 8/31/25
Project: Research project
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Integrated Knowledge Management Framework for Clinical Genomics
Freimuth, R. (PI)
National Human Genome Research Institute
9/10/21 → 6/30/25
Project: Research project
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FHIRCat: Enabling the Semantics of FHIR and Terminologies for Clinical and Translational Research
Freimuth, R. (PI) & Jiang, G. D. (CoPI)
National Institute of Biomedical Imaging and Bioengineering
5/15/21 → 1/31/25
Project: Research project
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Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges
Conlin, L. K., Landrum, M. J., Freimuth, R. R. & Funke, B., Jan 1 2025, In: Clinical chemistry. 71, 1, p. 45-53 9 p.Research output: Contribution to journal › Review article › peer-review
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Enabling the clinical application of artificial intelligence in genomics: A perspective of the AMIA Genomics and Translational Bioinformatics Workgroup
Walton, N. A., Nagarajan, R., Wang, C., Sincan, M., Freimuth, R. R., Everman, D. B., Walton, D. C., McGrath, S. P., Lemas, D. J., Benos, P. V., Alekseyenko, A. V., Song, Q., Gamsiz Uzun, E., Taylor, C. O., Uzun, A., Person, T. N., Rappoport, N., Zhao, Z. & Williams, M. S., Feb 1 2024, In: Journal of the American Medical Informatics Association. 31, 2, p. 536-541 6 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Lennon, N. J., Kottyan, L. C., Kachulis, C., Abul-Husn, N. S., Arias, J., Belbin, G., Below, J. E., Berndt, S. I., Chung, W. K., Cimino, J. J., Clayton, E. W., Connolly, J. J., Crosslin, D. R., Dikilitas, O., Velez Edwards, D. R., Feng, Q. P., Fisher, M., Freimuth, R. R., Ge, T. & Glessner, J. T. & 60 others, , Feb 2024, In: Nature Medicine. 30, 2, p. 480-487 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia
Bangash, H., Elsekaily, O., Saadatagah, S., Sutton, J., Johnsen, P., Gundelach, J. H., Kamzabek, A., Freimuth, R., Caraballo, P. J. & Kullo, I. J., Jun 2023, In: Journal of Personalized Medicine. 13, 6, 929.Research output: Contribution to journal › Article › peer-review
Open Access -
Development and application of a computable genotype model in the GA4GH Variation Representation Specification
Goar, W., Babb, L., Chamala, S., Cline, M., Freimuth, R. R., Hart, R. K., Kuzma, K., Lee, J., Nelson, T., Prlić, A., Riehle, K., Smith, A., Stahl, K., Yates, A. D., Rehm, H. L. & Wagner, A. H., 2023, In: Pacific Symposium on Biocomputing. 2023, p. 383-394 12 p.Research output: Contribution to journal › Conference article › peer-review
Open Access