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Start Over Author "Emma Ashton" Publisher elsevier bv
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2. Diagnosis of uncertain significance: can next-generation sequencing replace the clinician?

Author

Detlef Bockenhauer and Emma Ashton

Subjects
0301 basic medicine, Disease gene, medicine.medical_specialty, Computer science, 030232 urology & nephrology, Context (language use), DNA sequencing, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Nephrology, medicine, Intensive care medicine, Uncertain significance
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.

Published
2020

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