Diagnosis support systems for rare diseases: a scoping review

Table 2 Number of patients and controls per dataset

	Number of studies	Number of studies with datasets	Number of datasets	Number of patients
	Number of studies	Number of studies with datasets	Number of datasets	Median	Mean [Min, Max]
Patients
Group 1	29 studies	27 studies	29 datasets	50	291 [7, 5050]
Group 2	15 studies	14 studies	20 datasets	98	730 [5, 10,593]
Group 3	17 studies	8 studies	10 datasets	161	6929 [40, 39,000]
Controls
Group 1	29 studies	27 studies	29 datasets	70	105,491 [10, 2,966,363]

Studies are grouped according to the number of diseases they address. Group 1: one disease; group 2: a class of diseases; group 3: all rare/genetic diseases. The number of studies, datasets and patients per dataset for each group is given. For group 1, the number of individuals in the control groups is also given. Datasets from studies addressing all rare diseases (group 3) contain more patients on average

ISSN: 1750-1172