Show simple item record

dc.contributor.authorLadewig, Markus S
dc.contributor.authorJacobsen, Julius OB
dc.contributor.authorWagner, Alex H
dc.contributor.authorDanis, Daniel
dc.contributor.authorEl Kassaby, Baha
dc.contributor.authorGargano, Michael
dc.contributor.authorGroza, Tudor
dc.contributor.authorBaudis, Michael
dc.contributor.authorSteinhaus, Robin
dc.contributor.authorSeelow, Dominik
dc.contributor.authorBechrakis, Nikolaos E
dc.contributor.authorMungall, Christopher J
dc.contributor.authorSchofield, Paul N
dc.contributor.authorElemento, Olivier
dc.contributor.authorSmith, Lindsay
dc.contributor.authorMcMurry, Julie A
dc.contributor.authorMunoz‐Torres, Monica
dc.contributor.authorHaendel, Melissa A
dc.contributor.authorRobinson, Peter N
dc.date.accessioned2022-07-01T23:30:42Z
dc.date.available2022-07-01T23:30:42Z
dc.identifier.issn2641-6573
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/338680
dc.description.abstractThe Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person or biosample, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. We present a detailed example that illustrates how to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases.
dc.description.sponsorshipThe Alan Turing Institute
dc.publisherWiley
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleGA4GH Phenopackets: A Practical Introduction
dc.typeArticle
dc.publisher.departmentDepartment of Physiology, Development And Neuroscience
dc.date.updated2022-06-30T08:55:16Z
prism.publicationNameAdvanced Genetics
dc.identifier.doi10.17863/CAM.86093
dcterms.dateAccepted2022-06-29
rioxxterms.versionofrecord10.1002/ggn2.202200016
rioxxterms.versionVoR
dc.contributor.orcidRobinson, Peter N [0000-0002-0736-9199]
dc.identifier.eissn2641-6573
rioxxterms.typeJournal Article/Review
pubs.funder-project-idAlan Turing Institute (Unknown)
cam.issuedOnline2022-08-25
cam.orpheus.success2022-08-31: VoR added to Apollo record
cam.orpheus.counter7
cam.depositDate2022-06-30
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record

Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International