Review
Ariane Standing, Ebun Omoyinmi and Paul Brogan
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Clinical and Translational Allergy 2013, 3:32 doi:10.1186/2045-7022-3-32
Published: 26 September 2013
Abstract (provisional)
Steady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the familial Mediterranean fever gene MEFV (also known as marenostrin) in 1997, 18 other genes responsible for monogenic autoinflammatory diseases have been identified to date. The discovery of these genes was made through the utilisation of many genetic mapping techniques, including next generation sequencing platforms. This review article clearly describes the gene hunting approaches, methods of data analysis and the technological platforms used, which has relevance to all those working within the field of gene discovery for Mendelian disorders.
The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production.
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