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Table 1 Summary of general study characteristics

From: A scoping review and proposed workflow for multi-omic rare disease research

Study Characteristic

Number of Studies

(n = 66)

Percentage

Publication year

 2000–2010

1

1.52%

 2011–2015

21

31.82%

 2016–2019

44

66.67%

Study design

 Case-control

55

83.33%

 Familial study

6

9.09%

 Case-control and familial study

5

7.58%

Number of participants in studies

 1–5

21

31.82%

 6–10

3

4.55%

 11–20

6

9.09%

 21–50

5

7.58%

 51–100

12

18.18%

 101–200

7

10.61%

 201–500

5

7.58%

  > 1000

2

3.03%

 Not applicable (animal models)

3

4.55%

 Unknown

2

3.03%

Participant age

 0–10 years

10

15.15%

 11–20 years

1

1.52%

 21–30 years

2

3.03%

 31–40 years

1

1.52%

 41–50 years

6

9.09%

 51–60 years

8

12.12%

 61–70 years

9

13.64%

 Not applicable (animal models)

3

4.55%

 Unknown

26

39.39%

Participant race/ethnicity

Total known: 1534 participants

 

 Arab

10 participants

0.65%

 Asian

150 participants

9.78%

 Black/African/African-American

100 participants

6.52%

 Caucasian

1259 participants

82.07%

 Hispanic/Latino

10 participants

0.65%

 Mixed

5 participants

0.33%

 Not applicable

3 studies

–

 Unknown

40 studies

–