Article
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PloS one - 1 Jan 2017
Omoyinmi Ebun, Standing Ariane, Keylock Annette, Price-Kuehne Fiona, Melo Gomes Sonia, Rowczenio Dorota, Nanthapisal Sira, Cullup Thomas, Nyanhete Rodney, Ashton Emma, Murphy Claire, Clarke Megan, Ahlfors Helena, Jenkins Lucy, Gilmour Kimberly, Eleftheriou Despina, Lachmann Helen J, Hawkins Philip N, Klein Nigel, Brogan Paul A
Abstract excerpt
BACKGROUND: Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity. They cause significant morbidity, mortality and economic burden. Here, we aimed to develop and evaluate the clinical impact of a NGS targeted gene panel, the "Vasculitis and Inflammation Panel" (VIP)...
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