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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
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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