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Table 2 Synthesised Themes and Categories identified in stand-alone registries, registries linked to Biobanks, and stand-alone Rare Disease Biobanks

From: Impact of biobanks on research outcomes in rare diseases: a systematic review

Theme Theme code Category Linked resource (ref.) Identified in registries linked to Biobanks (REG + BB) Identified in stand-alone registries (REG) Identified in stand-alone Rare Disease Biobanks (RDBB)
Basic Science BS Omics [14, 52, 17, 18, 29, 35, 48, 19, 13, 31]  
Biomarker development [32, 35, 29]   
Subcohort identification [13, 25, 35, 21, 27]  
Epidemiology [48, 33, 21, 24, 26, 20, 22, 29, 35, 23, 30, 19, 34]
Translational science T Increased research projects [14, 33, 21, 23, 17, 30, 19, 22, 29, 18, 34]
Randomised controlled trials [48, 33, 34, 32, 22, 23, 21, 27, 29]  
Biospecimen contribution to studies [31, 17, 19, 27, 18, 32, 29, 25, 35, 24, 48, 49, 13, 14]  
Clinical observation CO Diagnosis/survival rate [28, 29, 25, 20, 19, 50, 51]  
Natural history of disease [31, 24, 27, 30, 23, 21, 28, 22, 29]  
Clinical treatment CT Diagnostics [17, 18, 33]  
Guidelines for treatment [32, 20, 21, 33, 25, 29]  
Treatment evaluation [26, 27, 30, 31, 20, 28, 33, 29, 25, 24]  
Facilitators F Benefits to stakeholders [23, 17, 18, 14, 32, 19, 22, 13]
Collaborations [24, 48, 20, 13, 26, 22, 17, 18, 32, 29, 33, 35, 30, 25, 49, 19, 21, 27]
Engagement [29, 30, 32, 34, 35]
Recruitment [34]   
Pro-active marketing [14]   
Barriers B Challenges [13, 17, 19, 21, 23,24,25,26, 29, 31, 33, 34]