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Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

Lorenz GrigullSandra MehmeckeAnn-Katrin RotherSusanne BlößChristian KlemannUlrike SchumacherUrs MückeXiaowei KortumWerner M LechnerFrank Klawonn
Published in: PloS one (2019)
Despite the great diversity in presentation and pathogenesis of each RD, patients with RD share surprisingly similar pre-diagnosis experiences. Our questionnaire and data-mining based approach successfully detected unique patterns in groups of individuals affected by a broad range of different rare diseases. Therefore, these results indicate distinct patterns that may be used for diagnostic support in RD.
Keyphrases
  • mental health
  • electronic health record
  • machine learning
  • case report
  • clinical decision support