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

Détails

ID Serval
serval:BIB_33B45C21C858
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Lettre (letter): communication adressée à l'éditeur.
Collection
Publications
Institution
Titre
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Périodique
Nature biotechnology
Auteur⸱e⸱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.
Collaborateur⸱rice⸱s
GAGH Phenopacket Modeling Consortium
Contributeur⸱rice⸱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
Statut éditorial
Publié
Date de publication
06/2022
Peer-reviewed
Oui
Volume
40
Numéro
6
Pages
817-820
Langue
anglais
Notes
Publication types: Letter
Publication Status: ppublish
Résumé
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
Création de la notice
21/06/2022 8:46
Dernière modification de la notice
08/06/2023 5:55
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