- Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn
- deep learning
- genome analysis
- GPI-anchor deficiencies
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Schmidt A et al. (2023) Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings. medRxiv Available at: https://www.medrxiv.org/content/10.1101/2023.04.19.23288824v1.abstract.