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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
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Automated phenotyping and interpretation of rapid whole-genome sequencing improve time to diagnosis of genetic diseases in hospitalized children.
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“The lack of health care funding, the underpreparedness of the pediatric workforce, and the resource-intensive nature of rapid testing represent significant barriers to widespread adoption.”
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“The power of genomic diagnosis is especially clear for those presenting with monogenic neurodevelopmental disorders and critically ill infants135,136.”
From A brief history of human disease genetics (2020) · cites this paper as [136]
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Metadata
- Authors
- Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., Farnaes, L., Bainbridge, M. N., Beebe, C., Braun, J. J. A., Bray, M., Carroll, J., Cakici, J. A., Caylor, S. A., Clarke, C., Creed, M. P., Friedman, J., Frith, A., Gain, R., Gaughran, M., George, S., Gilmer, S., Gleeson, J., Gore, J., Grunenwald, H., Hovey, R. L., Janes, M. L., Lin, K., McDonagh, P. D., McBride, K., Mulrooney, P., Nahas, S., Oh, D., Oriol, A., Puckett, L., Rady, Z., Reese, M. G., Ryu, J., Salz, L., Sanford, E., Stewart, L., Sweeney, N., Tokita, M., Van Der Kraan, L., White, S., Wigby, K., Williams, B., Wong, T., Wright, M. S., Yamada, C., Schols, P., Reynders, J., Hall, K., Dimmock, D., Veeraraghavan, N., Defay, T., & Kingsmore, S. F.
- Affiliations
- Rady Children's Institute for Genomic Medicine (US)
- University of Washington (US)
- Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA.
- Diploid, 3001 Leuven, Belgium.
- Clinithink Ltd., London N1 6DR, UK.
- University of California San Diego (US)
- GenomeDesigns Lab (United States) (US)
- Rady Children's Hospital-San Diego (US)
- Alexion Pharmaceuticals (United States) (US)
- University of Kansas (US)
- Tessella, Needham, MA 02494, USA.
- Illumina (United States) (US)
- Ontario Genomics (CA)
- Corresponding author
- Kingsmore, Stephen F.
- ORCID
- Clark, Michelle M.
- Hildreth, Amber
- Batalov, Sergey
- Ding, Yan
- Chowdhury, Shimul
- Watkins, Kelly
- Ellsworth, Katarzyna
- Kint, Cyrielle I.
- Yacoubian, Calum
- Farnaes, Lauge
- Bainbridge, Matthew N.
- Braun, Joshua J. A.
- Bray, Margaret
- Carroll, Jeanne
- Cakici, Julie A.
- Clarke, Christina
- Creed, Mitchell P.
- Friedman, Jennifer
- George, Shauna
- Gilmer, Sheldon
- Gleeson, Joseph
- Gore, Jeremy
- Grunenwald, Haiying
- Hovey, Raymond L.
- Janes, Marie L.
- Lin, Kejia
- Mulrooney, Patrick
- Nahas, Shareef
- Oh, Daeheon
- Oriol, Albert
- Reese, Martin G.
- Ryu, Julie
- Salz, Lisa
- Stewart, Lawrence
- Sweeney, Nathaly
- Van Der Kraan, Luca
- Wigby, Kristen
- Williams, Brett
- Reynders, John
- Hall, Kevin
- Dimmock, David
- Veeraraghavan, Narayanan
- Defay, Thomas
- Kingsmore, Stephen F.
- Venue
- Science Translational Medicine
- Published
- 2019-04-24
- Volume
- 11
- Issue
- 489
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC9512059
- OpenAlex
- W2942272601
- Cited by
- 300
- References
- 68
- Citations by year
- 2026: 27 · 2025: 39 · 2024: 25 · 2023: 40 · 2022: 57 · 2021: 44 · 2020: 51 · 2019: 17
- FWCI
- 25.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (u19hd077693, UL1TR002550, U01TR002271)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
- Keywords
- genetic disease diagnosis, whole genome sequencing, automated phenotyping, natural language processing, electronic health records, neonatal intensive care, pediatric intensive care, critically ill infants, rapid sequencing, precision medicine
- MeSH terms
- Female, Humans, Intensive Care Units, Natural Language Processing, Retrospective Studies, Diabetic Ketoacidosis, Genomics, Electronic Health Records
About these checks
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