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Genes 2014, 5(3), 615-634;

Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies

Centre for Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK
These authors contributed equally to this work and should be considered joint first authors.
Author to whom correspondence should be addressed.
Received: 4 April 2014 / Revised: 7 July 2014 / Accepted: 14 July 2014 / Published: 4 August 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing. We have now determined the genes underlying several monogenic diseases, such as harlequin ichthyosis, Olmsted syndrome, and exfoliative ichthyosis, which have provided unique insights into the structure and function of the skin. In addition, through genome wide association studies we now have an understanding of how low penetrance variants contribute to inflammatory skin diseases such as psoriasis vulgaris and atopic dermatitis, and how they contribute to underlying pathophysiological disease processes. In this review we discuss strategies used to unravel the genes underlying both monogenic and complex trait skin diseases in the last 10 years and the implications on mechanistic studies, diagnostics, and therapeutics. View Full-Text
Keywords: genodermatoses; exome; ichthyosis; atopic eczema; psoriasis genodermatoses; exome; ichthyosis; atopic eczema; psoriasis
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Maruthappu, T.; Scott, C.A.; Kelsell, D.P. Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies. Genes 2014, 5, 615-634.

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