The GA4GH Phenopacket schema defines a computable representation of clinical data.

Details

Serval ID
serval:BIB_33B45C21C858
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
Institution
Title
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Journal
Nature biotechnology
Author(s)
Jacobsen JOB, Baudis M., Baynam G.S., Beckmann J.S., Beltran S., Buske O.J., Callahan T.J., Chute C.G., Courtot M., Danis D., Elemento O., Essenwanger A., Freimuth R.R., Gargano M.A., Groza T., Hamosh A., Harris N.L., Kaliyaperumal R., Lloyd KCK, Khalifa A., Krawitz P.M., Köhler S., Laraway B.J., Lehväslaiho H., Matalonga L., McMurry J.A., Metke-Jimenez A., Mungall C.J., Munoz-Torres M.C., Ogishima S., Papakonstantinou A., Piscia D., Pontikos N., Queralt-Rosinach N., Roos M., Sass J., Schofield P.N., Seelow D., Siapos A., Smedley D., Smith L.D., Steinhaus R., Sundaramurthi J.C., Swietlik E.M., Thun S., Vasilevsky N.A., Wagner A.H., Warner J.L., Weiland C., Haendel M.A., Robinson P.N.
Working group(s)
GAGH Phenopacket Modeling Consortium
Contributor(s)
Axton M., Babb L., Boerkoel C.F., Chaudhari B.P., Chin H.L., Dumontier M., Gazzaz N., Hansen D.P., Hochheiser H., Kinsler V.A., Lochmüller H., Mankovich A.R., Saunders G.I., Sergouniotis P.I., Thompson R., Zankl A.
ISSN
1546-1696 (Electronic)
ISSN-L
1087-0156
Publication state
Published
Issued date
06/2022
Peer-reviewed
Oui
Volume
40
Number
6
Pages
817-820
Language
english
Notes
Publication types: Letter
Publication Status: ppublish
Abstract
n the clinical domain, substantial work has been dedicated to the development of computational phenotypes.1 Traditionally, these approaches have largely relied on rule-based methods and large sources of clinical data to identify cohorts of patients with or without a specific disease.2–5 However, they were not developed to enable deep phenotyping of abnormalities, to facilitate computational analysis of interpatient phenotypic similarity, or to support computational decision support. To address this, the Global Alliance for Genomics and Health6 (GA4GH) has developed the Phenopacket schema, which supports exchange of computable longitudinal case-level phenotypic information for diagnosis of and research on all types of disease, including Mendelian and complex genetic diseases, cancer, and infectious diseases. A Phenopacket characterizes an individual person or biosample, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments (Fig 1). The Phenopacket software is available at https://github.com/phenopackets/.
Pubmed
Web of science
Create date
21/06/2022 9:46
Last modification date
08/06/2023 6:55
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