Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
- 21 October 2024
- journal article
- editorial
- Published by Springer Nature in Nature Genetics
- Vol. 56 (11) , 2287-2294
Abstract
In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.Keywords
Funding Information
- Hjärnfonden
- Chan Zuckerberg Initiative
- Hållstens Forskningsstiftelse
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