In our Zenodo Community you will find numerous publications from the consortium.
Yépez, V. A., Demidov, G., Ellwanger, K., Laurie, S., Luknárová, R., Joseph Maran, M. I., Hentrich, T., Sagath, L., van der Sanden, B., Astuti, G., Neveling, K., Batlle-Masó, L., Beijer, D., Brechtmann, F., Caballero-Oteyza, A., Dabad, M., Denommé-Pichon, A. S., Doornbos, C., Eddafir, Z., Estévez-Arias, B., … Graessner, H. (2025). The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nature genetics, 10.1038/s41588-025-02290-3. Advance online publication. https://doi.org/10.1038/s41588-025-02290-3. ⇒ See our news post about this publication here.
Apondo, E., Mehlis, K., Bruns, A., Schickhardt, C., Winkler, E., & Züger, A. (2025). Toward Patient Involvement and Representation in the Governance of Genomic Data Archives: Deliberative Forums with Patients in Germany. Public health genomics, 28(1), 217–228. doi.org/10.1159/000546172. ⇒ See our news post about this publication here.
D'Altri, T., Freeberg, M. A., Curwin, A. J., Alonso, A., Freitas, A. T., Capella-Gutierrez, S., Gadelha, L., Hagwall, A., Hovig, E., Kerry, G., Kirli, K., Kochel, K., Kohlbacher, O., Korbel, J. O., Leinonen, J., Marciniak, B., Oliveira, J. S., Petersen, K., Silva, M. J., Stegle, O., … Keane, T. M. (2025). The Federated European Genome-Phenome Archive as a global network for sharing human genomics data. Nature genetics, 57(3), 481–485. https://doi.org/10.1038/s41588-025-02101-9
Wilkinson, S. R., Aloqalaa, M., Belhajjame, K., Crusoe, M. R., de Paula Kinoshita, B., Gadelha, L., Garijo, D., Gustafsson, O. J. R., Juty, N., Kanwal, S., Khan, F. Z., Köster, J., Peters-von Gehlen, K., Pouchard, L., Rannow, R. K., Soiland-Reyes, S., Soranzo, N., Sufi, S., Sun, Z., Vilne, B., … Goble, C. (2025). Applying the FAIR Principles to computational workflows. Scientific data, 12(1), 328. https://doi.org/10.1038/s41597-025-04451-9
Hanssen, F., Garcia, M. U., Folkersen, L., Pedersen, A. S., Lescai, F., Jodoin, S., Miller, E., Seybold, M., Wacker, O., Smith, N., Gabernet, G., & Nahnsen, S. (2024). Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery. NAR genomics and bioinformatics, 6(2), lqae031. https://doi.org/10.1093/nargab/lqae031. ⇒ See our news post about this publication here.
Hanssen, F., Gabernet, G., Smith, N. H., Mertes, C., Neogi, A. G., Brandhoff, L., Ossowski, A., Altmueller, J., Becker, K., Petzold, A., Sturm, M., Stöcker, T., Sugirthan, S., Brand, F., Schmid, A., Buness, A., Probst, A.J., Motameny, S. & Köster, J. (2023). NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling. F1000Research, 12, 1125. https://doi.org/10.12688/f1000research.140344.1. ⇒ See our news post about this publication here.
Molnár-Gábor, F., Beauvais, M.J.S., Bernier, A., Jimenez, M.P.N., Recuero, M., Knoppers, B.M. (2022). Bridging the European Data Sharing Divide in Genomic Science, J Med Internet Res; 24(10):e37236. https://doi.org/10.2196/37236. ⇒ See our news post about this publication here.
Porubsky, D., Höps., W, Ashraf, H., Hsieh, P., Rodriguez-Martin, B., Yilmaz, F., Ebler, J., Hallast, P., Maria Maggiolini, F.A., Harvey, W.T., Henning, B., Audano, P.A., Gordon, D.S., Ebert, P., Hasenfeld, P., Benito, E., Zhu, Q., Human Genome Structural Variation Consortium (HGSVC), Lee, C., Antonacci, F., Steinrücken, M., Beck, C.R., Sanders, A.D., Marschall, T., Eichler, E.E., Korbel, J.O. (2022). Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell 185(11):1986-2005.e26. https://doi.org/10.1016/j.cell.2022.04.017. ⇒ See our news post about this publication here.
Yépez, V.A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N.H., [...] Meitinger, T., Julien Gagneur, J. & Prokisch, H. (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med 14, 38. https://doi.org/10.1186/s13073-022-01019-9. ⇒ See our news post about this publication here.
Molnar-Gabor, F., Sellner, J., Pagil, S., Slokenberga, S., Tzortzatou, O., & Nyström, K. (2021). Harmonization after the GDPR? Divergences in the rules for genetic and health data sharing in four member states and ways to overcome them by EU measures: insights from Germany, Greece, Latvia and Sweden. Seminars in cancer biology. Academic Press. https://doi.org/10.1016/j.semcancer.2021.12.001. ⇒ See our news post about this publication here.
Hallinan, D., Bernier, A., Cambon-Thomsen, A., Crawley, F.P., Dimitrova, D., Bauzer Medeiros, C., Nilsonne, G., Parker, S., Pickering, B., & Rennes, S. (2021). International transfers of personal data for health research following Schrems II: a problem in need of a solution. Eur J Hum Genet 29, 1502–1509. https://doi.org/10.1038/s41431-021-00893-y