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.
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
PhD, Genome Sciences, University of Washington
… → 2015
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Collaborations and top research areas from the last five years
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Gene and Variant Curation for Pediatric Cataracts
Gordon, A. S. (PD/PI)
Ann & Robert H. Lurie Children's Hospital of Chicago
10/1/24 → 9/30/25
Project: Research project
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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 -
A deep catalogue of protein-coding variation in 983,578 individuals
Senior Partnerships and Business Operations, Business Operations and Administrative Coordinators, RGC-ME Cohort Partners, Accelerated Cures, African Descent and Glaucoma Evaluation Study (ADAGES) III, Age-related macular degeneration in the Amish, Albert Einstein College of Medicine, Amish Connectome Project, Amish Research Clinic, The Australia and New Zealand MS Genetics Consortium, Center for Non-Communicable Diseases (CNCD), Cincinnati Children’s Hospital, Columbia University, Dallas Heart Study, Diabetic Retinopathy Clinical Research (DRCR) Retina Network, Duke University, Flinders University of South Australia, Indiana Biobank, Indiana University School of Medicine & Kaiser Permanente & 26 others, , Jul 18 2024, In: Nature. 631, 8021, p. 583-592 10 p.Research output: Contribution to journal › Article › peer-review
Open Access13 Scopus citations -
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
2 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 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
Open Access5 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), 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), 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