Next generation sequencing in diagnostic practice. From variant to diagnosis

Bettecken, T., Pfeufer, A., Sudbrak, R., Siddiqui, R., Franke, A., Wienker, T. F. and Krawczak, Michael (2014) Next generation sequencing in diagnostic practice. From variant to diagnosis Medizinische Genetik, 26 (1). pp. 21-27.

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Next generation sequencing (NGS) allows whole exome or whole genome sequencing for a given patient to be performed timely and at reasonable cost. This diagnostic quantum leap not only has various legal, ethical and economical aspects but will naturally also impact upon patient care. Currently, however, the wide-spread introduction of NGS into routine diagnostics is facing many obstacles. In particular, it is to be expected that NGS will identify a large number of rare variants in a given patient that are of (yet) unknown clinical significance. As a first step towards solving this problem, we introduce the concept of a database that will systematically integrate genotypic and phenotypic information from the German health care context. Not only will this resource be of great scientific value, but the database shall also provide human geneticists with the evidence base necessary for the reliable evaluation of their patient-related sequencing data.

Document Type: Article
Additional Information: Times Cited: 1 Krawczak, Michael/A-8964-2010 0 1
Research affiliation: Kiel University
OceanRep > The Future Ocean - Cluster of Excellence
ISSN: 1863-5490
Projects: Future Ocean
Date Deposited: 30 Mar 2015 11:59
Last Modified: 30 Mar 2015 11:59

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