Phenotyping: targeting genotype's rich cousin for diagnosis

Baynam, Gareth, Walters, Mark, Claes, Peter, Kung, Stefanie, LeSouef, Peter, Dawkins, Hugh, Bellgard, Matthew, Girdea, Marta, Brudno, Michael, Robinson, Peter, Zankl, Andreas, Groza, Tudor, Gillett, David and Goldblatt, Jack (2014) Phenotyping: targeting genotype's rich cousin for diagnosis. Journal of Paediatrics and Child Health, 51 4: 381-386. doi:10.1111/jpc.12705

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads

Author Baynam, Gareth
Walters, Mark
Claes, Peter
Kung, Stefanie
LeSouef, Peter
Dawkins, Hugh
Bellgard, Matthew
Girdea, Marta
Brudno, Michael
Robinson, Peter
Zankl, Andreas
Groza, Tudor
Gillett, David
Goldblatt, Jack
Title Phenotyping: targeting genotype's rich cousin for diagnosis
Journal name Journal of Paediatrics and Child Health   Check publisher's open access policy
ISSN 1034-4810
Publication date 2014-08-11
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/jpc.12705
Open Access Status
Volume 51
Issue 4
Start page 381
End page 386
Total pages 6
Place of publication Chichester, West Sussex, United Kingdom
Publisher Wiley-Blackwell
Collection year 2015
Language eng
Abstract 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.
Keyword Deep phenotyping
General paediatrics
International child health
Precision medicine
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: UQ Centre for Clinical Research Publications
Official 2015 Collection
School of Information Technology and Electrical Engineering Publications
School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 2 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 2 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Thu, 02 Oct 2014, 11:19:37 EST by Dr Tudor Groza on behalf of School of Information Technol and Elec Engineering