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Whole-genome sequencing and the clinician: a tale of two cities.

Foley, AR; Pitceathly, RD; He, J; Kim, J; Pearson, NM; Muntoni, F; Hanna, MG; (2014) Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2013-306264. Green open access

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Abstract

Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing. Access to genomic technology and resultant data is no longer limited to clinicians, geneticists and bioinformaticians, however; ongoing commercialisation gives patients themselves ever greater access to sequencing services. We report an increasingly common medical scenario by describing two neuromuscular patients-a mother and adult son-whose consumer access to whole-genome sequencing affected their diagnostic journey.

Type: Article
Title: Whole-genome sequencing and the clinician: a tale of two cities.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jnnp-2013-306264
Publisher version: htt://dx.doi.org/10.1136/jnnp-2013-306264
Language: English
Additional information: This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/3.0/
Keywords: COLLAGEN, GENETICS, MYOPATHY
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1426691
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