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Diagnosis of uncertain significance: can next generation sequencing replace the clinician?

Ashton, E; Bockenhauer, D; (2020) Diagnosis of uncertain significance: can next generation sequencing replace the clinician? Kidney International , 97 (3) pp. 455-457. 10.1016/j.kint.2019.12.012. Green open access

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Abstract

New sequencing technologies are revolutionizing disease gene discovery and testing with tremendous benefits for the diagnosis of rare diseases. However, the more we sequence, the more we discover, and the challenge is to assess the numerous variants in the clinical and genetic context carefully to establish the correct diagnosis. Clinicians and geneticists must work together for this because failure to do so can result in incorrect advice with potentially serious consequences.

Type: Article
Title: Diagnosis of uncertain significance: can next generation sequencing replace the clinician?
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.kint.2019.12.012
Publisher version: https://doi.org/10.1016/j.kint.2019.12.012
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
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 Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/10088756
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