Table 1 Database queries

PubMed

(((“Diagnosis”[MeSH] OR “diagnostic”[TIAB] OR “diagnostics”[TIAB] OR “diagnosis”[TIAB] OR “diagnoses”[TIAB]) AND

(“rare diseases”[MeSH] OR “Genetic Diseases, Inborn/genetics”[MeSH] OR ((“rare”[TIAB] OR “genetic”[TIAB] OR “orphan”[TIAB]) AND (“diseases”[TIAB] OR “disease”[TIAB])))) OR

(“Rare Diseases/diagnosis”[MeSH] OR “Genetic Diseases, Inborn/diagnosis”[MeSH])) AND

(“Decision Support Systems, Clinical”[MeSH] OR “Decision Support Techniques”[MeSH] OR “decision support”[TIAB] OR “artificial intelligence”[MeSH] OR “artificial intelligence”[TIAB] OR “Medical Informatics Computing”[MeSH] OR “Big data”[MeSH] OR “Data Mining/methods”[MeSH] OR “expert system”[TIAB] OR “information retrieval”[TIAB] OR “search engine”[MeSH] OR “Software Design”[MeSH] OR “Software Validation”[MeSH])

Web of Science

(ALL = (“rare disease*” OR “genetic disease*” OR “orphan disease*”) OR (TI = (“rare” OR “genetic” OR “orphan”) AND TI = “disease*”)) AND

ALL = (diagnosis OR diagnostic* OR diagnoses) AND

ALL = (“decision support*” OR “expert system*” OR “artificial intelligence” OR “information retrieval” OR “search engine*” OR “medical informatics computing” OR “software design” OR “software validation” OR “big data” OR “data mining”)