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 KlawonnPublished 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.