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Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.

Alice BurleighEbun OmoyinmiCharalampia PapadopoulouEslam Al-AbadiYing HongFiona Price-KuehneElena MoraitisHannah TitheradgeFrancesca MontesiDiane XuDespina EleftheriouPaul Brogan
Published in: Rheumatology (Oxford, England) (2023)
We describe a novel genetic workflow for BD, which can efficiently detect known and potentially novel monogenic forms of BD, whilst additionally providing HLA-typing. Our results highlight the importance of genetic testing before BD diagnosis, since this has impact on choice of therapy, prognosis, and genetic counselling.
Keyphrases
  • copy number
  • genome wide
  • stem cells
  • dna methylation
  • gene expression
  • men who have sex with men
  • hiv infected
  • antiretroviral therapy
  • cell free