Posters, presentations and much more:

In our Zenodo Community you will find numerous publications from the consortium.

Publications

2024

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 bioinformatics6(2), lqae031. https://doi.org/10.1093/nargab/lqae031. See our news post about this publication here.

2023

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.

Parker, S., Deschler, K., Eufinger, J., Kirli, K., Kohlbacher, O., Kuchenbecker, L., Molnár-Gábor, F., Schaffer, M., Schatlowski, N., Stegle, O., & Struck, M. (2023). The Legal and Data Protection Concept for the Operation of the German Human Genome-Phenome Archive (GHGA). Zenodo. https://doi.org/10.5281/zenodo.8391892. See our news post about this publication here.

The GHGA Consortium. (2023). The German Human Genome-Phenome Archive - GHGA Brochure. Zenodo. https://doi.org/10.5281/zenodo.8359328

Iyappan, A., Mauer, K., Menges, P., Sürün, B., Tremper, G., Parker, S., Kırlı, K., Kraus, F., Unni, D., Schultze, J. L., Bork, P., Ulas, T., Nahnsen, S., & The GHGA Consortium. (2023). Metadata Schema for the German Human Genome-Phenome Archive. Zenodo. https://doi.org/10.5281/zenodo.8341224. See our news post about this publication here.

Apondo, E., Bruns, A., Züger, A., Mehlis, K., Müller, A., Brunsmann, F., Eufinger, J., Parker, S., Schickhardt, C., Winkler, E., & The GHGA Consortium. (2023). Patient Involvement in the Governance of the German Human Genome-Phenome Archive (GHGA): Patients' perspectives and recommendations for implementation. Zenodo. https://doi.org/10.5281/zenodo.8212916. See our news post about this publication here.

Schickhardt, C., Winkler, E., Sax, U., Buchner, B. (2023). Dateninfrastrukturen für die Gesundheitsforschung - Ethische Rahmenbedingungen und rechtliche Umsetzung, Bundesgesundheitsblatt; https://doi.org/10.1007/s00103-022-03648-2

2022

Jungkunz, M, Köngeter, A, Spitz, M., Mehlis, K., Cornelius, K., Schickhardt, C., & Winkler, E. C. (2022). Stellungnahme zur Etablierung der sekundären Forschungsnutzung von Behandlungsdaten in Deutschland: Ergebnisse des Verbundprojekts LinCDat:„Learning from Clinical Data. Ethical, Social and Legal Aspects. In Forum Marsilius-Kolleg (Vol. 21, pp. 1-123). https://doi.org/10.11588/fmk.2022.1.91697. See our news post about this publication here.

Fluck, J., Pigeot, I., Stegle, O., Kohlbacher, O., Förstner, K. U., McHardy, A., & Sure-Vetter, Y. (2022). Rückmeldung der lebenswissenschaftlichen Nationalen Forschungsdateninfrastrukturen NFDI4Health, GHGA und NFDI4Microbiota zu den Positionen und Empfehlungen des Wissenschaftsrats–Digitalisierung und Datennutzung für Gesundheitsforschung und Versorgung. Zenodo. https://doi.org/10.4126/FRL01-006434341.

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.

Molnár-Gábor, F., Kaldowski, L., Schenk, A. (2022). Alteinwilligungen im Forschungskontext. Zeitschrift für Datenschutz, 7/2022, 376-383. PDF. See our Legacy Consent Toolkit based on this publication here.

Bruns, A., Benet-Pages, A., Eufinger, J., Graessner, H., Kohlbacher, O., Molnár-Gábor, F., Parker, S., Schickhardt, C., Stegle, O., & Winkler, E. (2022). Consent Modules for Data Sharing via the German Human Genome-Phenome Archive (GHGA) (1.0). Zenodo. https://doi.org/10.5281/zenodo.6828131See 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.

2021

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.

Molnár-Gábor, F., Korbel, J., & GHGA-Konsortium. (2021). Das Deutsche Humangenom-Phenomarchiv. Bunsen-Magazin 2, 102-104, Seiten: 102-104 Frankfurt am Main: Deutsche Bunsen-Gesellschaft für physikalische Chemie e.V. DOI: 10.26125/7k2x-dp05

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 291502–1509. https://doi.org/10.1038/s41431-021-00893-y 

Molnár-Gábor, F., Kaldowski, L., Korbel, J. (2021). Verhaltenskodex für die Omics-Forschung. Zeitschrift für Datenschutz 6, 313-318. Link PDF

Rehm, H. L., Page, A. J., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., [...] Molnár-Gábor, F., Winkler E., [...] & Birney, E. (2021). GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics, 1(2), 100029. https://doi.org/10.1016/j.xgen.2021.100029. See our news post about this publication here.

Eufinger, J., Korbel J., Winkler E., Kohlbacher O., und Stegle O. (2021). Genomdaten FAIR und Sicher Teilen: Das Deutsche Humangenom-Phänom Archiv (GHGA) als Baustein der Nationalen Forschungsdateninfrastruktur“. Bausteine Forschungsdatenmanagement, Nr. 2. https://doi.org/10.17192/bfdm.2021.2.8349