Cited by 300Genomics and Rare DiseasesMetabolism and Genetic DisordersArtificial Intelligence in Healthcare and Education

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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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Clark, Michelle M., Hildreth, Amber, Batalov, Sergey, Ding, Yan, Chowdhury, Shimul, Watkins, Kelly, Ellsworth, Katarzyna, Camp, Brandon, Kint, Cyrielle I., Yacoubian, Calum, Farnaes, Lauge, Bainbridge, Matthew N., Beebe, Curtis, Braun, Joshua J. A., Bray, Margaret, Carroll, Jeanne, Cakici, Julie A., Caylor, Sara A., Clarke, Christina, Creed, Mitchell P., Friedman, Jennifer, Frith, Alison, Gain, Richard, Gaughran, Mary, George, Shauna, Gilmer, Sheldon, Gleeson, Joseph, Gore, Jeremy, Grunenwald, Haiying, Hovey, Raymond L., Janes, Marie L., Lin, Kejia, McDonagh, Paul D., McBride, Kyle, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Oriol, Albert, Puckett, Laura, Rady, Zia, Reese, Martin G., Ryu, Julie, Salz, Lisa, Sanford, Erica, Stewart, Lawrence, Sweeney, Nathaly, Tokita, Mari, Van Der Kraan, Luca, White, Sarah, Wigby, Kristen, Williams, Brett, Wong, Terence, Wright, Meredith S., Yamada, Catherine, Schols, Peter, Reynders, John, Hall, Kevin, Dimmock, David, Veeraraghavan, Narayanan, Defay, Thomas, Kingsmore, Stephen F.·2019·Science Translational Medicine

DOI 10.1126/scitranslmed.aat6177PMC PMC9512059

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Abstract

Automated phenotyping and interpretation of rapid whole-genome sequencing improve time to diagnosis of genetic diseases in hospitalized children.

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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
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2019-04-24
Volume: 11
Issue: 489
ISSN: 1946-6234 (ISSN-L)
1946-6242
DOI: 10.1126/scitranslmed.aat6177
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

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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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