Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Roland PossetSven F GarbadeNikolas BoyAlberto B BurlinaCarlo Dionisi-ViciDries DobbelaereAngeles Garcia-CazorlaPascale de LonlayElisa Leão TelesRoshni VaraNicholas Ah MewMark L BatshawMatthias R BaumgartnerShawn E McCandlessJennifer SeminaraMarshall SummarGeorg F HoffmannStefan KölkerPeter Burgardnull null

Published in: Journal of inherited metabolic disease (2020)

Combined analysis of databases drawn from distinct populations opens the possibility to increase sample sizes for natural history questions, while comparative analysis utilizing differences in approach to treatment can evaluate therapeutic options and enhance long-term outcome studies.

Keyphrases

big data
electronic health record
case control
deep learning
smoking cessation