Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Ebun OmoyinmiAriane StandingAnnette KeylockFiona Price-KuehneSonia Melo GomesDorota RowczenioSira NanthapisalThomas CullupRodney NyanheteEmma AshtonClaire MurphyMegan ClarkeHelena AhlforsLucy JenkinsKimberly GilmourDespina EleftheriouHelen J LachmannPhilip N HawkinsNigel KleinPaul A Brogan

Published in: PloS one (2017)

The high diagnostic yield and accuracy of this comprehensive targeted gene panel validate the use of broad NGS-based testing for patients with suspected AID.

Keyphrases

copy number
genome wide
cancer therapy
genome wide identification
gene expression
dna methylation
drug delivery