Grants per year
Personal profile
Research Interests
My lab is interested in understanding the rates and types of clinically-relevant variation uncovered by personal genome, exome, and panel sequencing across both medical and consumer contexts. I am particularly interested in understanding and improving variant interpretation in minority and under-served populations by linking analysis of population-scale electronic health record data with high-throughput methods to measure variant function, and translating these data to inform the development of professional guidelines, standards, and policy surrounding patient and provider interactions with personal genomes. In addition to my research, I'm passionate about science communication and education; I teach and tutor frequently at all levels in addition to volunteer work at local science museums.
Education/Academic qualification
PhD, Genome Sciences, University of Washington
… → 2015
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Collaborations and top research areas from the last five years
Grants
- 2 Active
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Investigating structural and genetic substrates of early-onset atrial fibrillation
Roy-Puckelwartz, M. J. (PD/PI), Gordon, A. S. (Co-Investigator) & Passman, R. S. (Co-Investigator)
Ann & Robert H. Lurie Children’s Hospital of Chicago, National Heart, Lung, and Blood Institute
7/1/23 → 6/30/28
Project: Research project
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Northwestern Genomic Risk Assessment and Management Program
Chisholm, R. L. (PD/PI), Chisholm, R. L. (PD/PI), McNally, E. M. (PD/PI), McNally, E. M. (PD/PI), Rasmussen-Torvik, L. J. (PD/PI), Rasmussen-Torvik, L. J. (PD/PI), Gordon, A. S. (Co-Investigator), Gordon, A. S. (Co-Investigator), Kho, A. N. (Co-Investigator), Kho, A. N. (Co-Investigator), Luo, Y. (Co-Investigator), Luo, Y. (Co-Investigator), Perera, M. (Co-Investigator), Perera, M. (Co-Investigator), Roy-Puckelwartz, M. J. (Co-Investigator), Roy-Puckelwartz, M. J. (Co-Investigator), Scherr, C. E. L. (Co-Investigator), Scherr, C. E. L. (Co-Investigator), Scherr, C. E. L. (Co-Investigator), Scholtens, D. M. (Co-Investigator), Scholtens, D. M. (Co-Investigator), Smith, M. E. (Co-Investigator), Smith, M. E. (Co-Investigator), Starren, J. (Co-Investigator), Starren, J. (Co-Investigator), Walunas, T. L. (Co-Investigator), Walunas, T. L. (Co-Investigator), Wehbe, F. (Co-Investigator), Wehbe, F. (Co-Investigator), Aufox, S. A. (Other), Aufox, S. A. (Other), Hoell, C. (Other) & Hoell, C. (Other)
National Human Genome Research Institute
7/1/20 → 4/30/25
Project: Research project
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A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain—Case Report and Literature Review
Zhao, S. H., Yap, K. L., Allegretti, V., Drackley, A., Ing, A., Gordon, A., Skol, A., McMullen, P., Bohnsack, B. L., Kurup, S. P., Ralay Ranaivo, H. & Rossen, J. L., Jun 2024, In: Genes. 15, 6, 686.Research output: Contribution to journal › Article › peer-review
Open Access -
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
ACMG Secondary Findings Working Group, Jul 2024, In: Genetics in Medicine. 26, 7, 101142.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
Open Access1 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, , Jun 6 2024, In: American journal of human genetics. 111, 6, p. 999-1005 7 p.Research output: Contribution to journal › Review article › peer-review
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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 Access11 Scopus citations
Datasets
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Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis
Kawai, V. K. (Creator), Shi, M. (Contributor), Liu, G. (Creator), Feng, Q. (Creator), Wei, W. (Creator), Chung, C. P. (Creator), Walunas, T. L. (Creator), Gordon, A. S. (Creator), Linneman, J. G. (Creator), Hebbring, S. J. (Creator), Harley, J. B. (Creator), Cox, N. J. (Creator), Roden, D. M. (Creator), Stein, C. M. (Contributor), Mosley, J. D. (Creator), Liu, G. (Creator), Cox, N. J. (Creator), Roden, D. M. (Creator) & Mosley, J. D. (Creator), SAGE Journals, 2021
DOI: 10.25384/sage.c.5423292, https://sage.figshare.com/collections/Pleiotropy_of_systemic_lupus_erythematosus_risk_alleles_and_cardiometabolic_disorders_A_phenome-wide_association_study_and_inverse-variance_weighted_meta-analysis/5423292
Dataset
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sj-xlsx-1-lup-10.1177_09612033211014952 - Supplemental material for Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis
Kawai, V. K. (Creator), Shi, M. (Contributor), Liu, G. (Creator), Feng, Q. (Creator), Wei, W. (Creator), Chung, C. P. (Creator), Walunas, T. L. (Creator), Gordon, A. S. (Creator), Linneman, J. G. (Creator), Hebbring, S. J. (Creator), Harley, J. B. (Creator), Cox, N. J. (Creator), Roden, D. M. (Creator), Stein, C. M. (Contributor), Mosley, J. D. (Creator), Liu, G. (Creator), Cox, N. J. (Creator), Roden, D. M. (Creator) & Mosley, J. D. (Creator), SAGE Journals, 2021
DOI: 10.25384/sage.14588139, https://sage.figshare.com/articles/dataset/sj-xlsx-1-lup-10_1177_09612033211014952_-_Supplemental_material_for_Pleiotropy_of_systemic_lupus_erythematosus_risk_alleles_and_cardiometabolic_disorders_A_phenome-wide_association_study_and_inverse-variance_weighted_meta-analysis/14588139
Dataset