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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 CharacteristicNumber of Studies
(n = 66)
Percentage
Publication year
 2000–201011.52%
 2011–20152131.82%
 2016–20194466.67%
Study design
 Case-control5583.33%
 Familial study69.09%
 Case-control and familial study57.58%
Number of participants in studies
 1–52131.82%
 6–1034.55%
 11–2069.09%
 21–5057.58%
 51–1001218.18%
 101–200710.61%
 201–50057.58%
  > 100023.03%
 Not applicable (animal models)34.55%
 Unknown23.03%
Participant age
 0–10 years1015.15%
 11–20 years11.52%
 21–30 years23.03%
 31–40 years11.52%
 41–50 years69.09%
 51–60 years812.12%
 61–70 years913.64%
 Not applicable (animal models)34.55%
 Unknown2639.39%
Participant race/ethnicityTotal known: 1534 participants 
 Arab10 participants0.65%
 Asian150 participants9.78%
 Black/African/African-American100 participants6.52%
 Caucasian1259 participants82.07%
 Hispanic/Latino10 participants0.65%
 Mixed5 participants0.33%
 Not applicable3 studies
 Unknown40 studies