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dc.contributor.authorBaynam, G.
dc.contributor.authorWalters, M.
dc.contributor.authorClaes, P.
dc.contributor.authorKung, S.
dc.contributor.authorLeSouef, P.
dc.contributor.authorDawkins, Hugh
dc.contributor.authorBellgard, M.
dc.contributor.authorGirdea, M.
dc.contributor.authorBrudno, M.
dc.contributor.authorRobinson, P.
dc.contributor.authorZankl, A.
dc.contributor.authorGroza, T.
dc.contributor.authorGillett, D.
dc.contributor.authorGoldblatt, J.
dc.identifier.citationBaynam, G. and Walters, M. and Claes, P. and Kung, S. and LeSouef, P. and Dawkins, H. and Bellgard, M. et al. 2015. Phenotyping: Targeting genotype’s rich cousin for diagnosis. Journal of Paediatrics and Child Health. 51: pp. 381-386.

There are many current and evolving tools to assist clinicians in their daily work of phenotyping. In medicine, the term ‘phenotype’ is usually taken to mean some deviation from normal morphology, physiology and behaviour. It is ascertained via history, examination and investigations, and a primary aim is diagnosis. Therefore, doctors are, by necessity, expert ‘phenotypers’. There is an inherent and partially realised power in phenotypic information that when harnessed can improve patient care. Furthermore, phenotyping developments are increasingly important in an era of rapid advances in genomic technology. Fortunately, there is an expanding network of phenotyping tools that are poised for clinical translation. These tools will preferentially be implemented to mirror clinical workflows and to integrate with advances in genomic and information-sharing technologies. This will synergise with and augment the clinical acumen of medical practitioners. We outline key enablers of the ascertainment, integration and interrogation of clinical phenotype by using genetic diseases, particularly rare ones, as a theme. Successes from the test bed or rare diseases will support approaches to common disease.

dc.publisherBlackwell Scientific Publications
dc.subjectprecision medicine
dc.subjectgeneral paediatrics
dc.subjectinternational child health
dc.subjectdeep phenotyping
dc.titlePhenotyping: Targeting genotype’s rich cousin for diagnosis
dc.typeJournal Article
dcterms.source.titleJournal of Paediatrics and Child Health
curtin.departmentCentre for Population Health Research
curtin.accessStatusFulltext not available

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