Pushing the boundaries of rare disease diagnostics with the help of the first undiagnosed hackathon

Authors

Angelica Maria Delgado-Vega, Karolinska University Hospital, Stockholm, Sweden
Helene Cederroth, Wilhelm Foundation, Brottby, Sweden
Fulya Taylan, Karolinska University Hospital, Stockholm, Sweden
Katja Ekholm, Karolinska University Hospital, Stockholm, Sweden
Salman Kirmani, Aga Khan UniversityFollow
Marlene Ek, Karolinska University Hospital, Stockholm, Sweden
Håkan Thonberg, Karolinska University Hospital, Stockholm, Sweden
Anders Jemt, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden
Daniel Nilsson, Karolinska University Hospital, Stockholm, Sweden
Jesper Eisfeldt, Karolinska University Hospital, Stockholm, Sweden
Kristine Bilgrav Saether, Karolinska Institutet, Stockholm, Sweden
Ida Höijer, Uppsala University, Uppsala, Sweden
Ozlem Akgun- Dogan, School of Medicine, Acibadem University, Istanbul, Turkey
Yui Asano, Swallow Design Studio, Tokyo, Japan
Tahsin Stefan Barakat, Erasmus MC University Medical Center, Rotterdam, the Netherlands
Dominyka Batkovskyte, Karolinska Institutet, Stockholm, Sweden
Gareth Baynam, Perth Children’s Hospital, Perth, Western Australia, Australia
Olaf Bodamer, Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA
Wanna Chetruengchai, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Pádraic Corcoran, Uppsala University, Uppsala, Sweden

Document Type

Response or Comment

Department

Paediatrics and Child Health; Women and Child Health; Centre of Excellence in Women and Child Health

Comments

Abstract is not provided by the author/publisher.

Publication (Name of Journal)

Nature Genetics

DOI

doi.org/10.1038/s41588-024-01941-1

Recommended Citation

Delgado-Vega, A. M., Cederroth, H., Taylan, F., Ekholm, K., Kirmani, S., Ek, M., Thonberg, H., Jemt, A., Nilsson, D., Eisfeldt, J., Saether, K. B., Höijer, I., Dogan, O. A., Asano, Y., Barakat, T. S., Batkovskyte, D., Baynam, G., Bodamer, O., Chetruengchai, W., Corcoran, P. (2024). Pushing the boundaries of rare disease diagnostics with the help of the first undiagnosed hackathon. Nature Genetics, 56(11), 2287-2294.
Available at: https://ecommons.aku.edu/coe-wch/122