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 | Â |
 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 | – |