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Genes 2014, 5(4), 1001-1017; doi:10.3390/genes5041001

Delivery of a Clinical Genomics Service

1
Manchester Centre for Genomic Medicine, University of Manchester, Manchester, M13 9WL, UK
2
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK
*
Authors to whom correspondence should be addressed.
Received: 7 September 2014 / Revised: 28 October 2014 / Accepted: 30 October 2014 / Published: 6 November 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Abstract

Over the past five years, next generation sequencing has revolutionised the discovery of genes responsible for rare inherited diseases previously resistant to traditional discovery techniques. This review considers how this new technology is being introduced into clinical practice to aid diagnosis and improve the clinical management of individuals and families affected by rare diseases where access to genetic testing was previously limited. We compare and contrast the different approaches that have been adopted including panel based tests, exome and genome sequencing. We provide insights from our own clinical practice demonstrating the challenges and benefits of this new technology. View Full-Text
Keywords: next generation sequencing; rare disease; exome; panel testing next generation sequencing; rare disease; exome; panel testing
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Newman, W.G.; Black, G.C. Delivery of a Clinical Genomics Service. Genes 2014, 5, 1001-1017.

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