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Phenotype Risk Score but not Genetic Risk Score aids in identifying individuals with Systemic Lupus Erythematosus in the Electronic Health Record.

April BarnadoLee WhelessAlex CamaiSarah GreenBryan HanAnish KattaJoshua C DennyAmr Hakam Sawalha
Published in: Arthritis & rheumatology (Hoboken, N.J.) (2023)
We developed a SLE PheRS to identify established and undiagnosed SLE individuals. A SLE GRS using known risk SNPs did not add value beyond the PheRS and was of limited utility in Black SLE individuals. More work is needed to understand the genetic risks of SLE in diverse populations. This article is protected by copyright. All rights reserved.
Keyphrases
  • systemic lupus erythematosus
  • disease activity
  • electronic health record
  • genome wide
  • rheumatoid arthritis
  • dna methylation
  • risk assessment
  • gene expression
  • human health
  • adverse drug