UNDIAGNOSED HACKATHON
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Nijmegen, the Netherlands • June 7 – 8, 2024
6th June Kick off with a lunch
followed by a ”Tools” Workshop
Organized by Department of Human Genetics, Radboudumc
and the Wilhelm Foundation
A special thank you to the IT Office at Karolinska Institute
for providing us with a powerful Hackathon server again!
#undiagnosedhackathon2024
Purpose
350 million people live with an undiagnosed disease worldwide. Genome sequencing can provide answers for 40 % of children and adults with undiagnosed diseases, but around 60% still don't receive a diagnosis.
The purpose of the Undiagnosed Hackathon is trying to find new ways and collaborations to solve the undiagnosed diseases, that can’t be solved today.
In this unique event multidisciplinary teams of clinicians, bioinformaticians/molecular biologists, scientists, developers, AI specialists and brilliant minds will work together to tackle the most difficult diseases.
The event centers around the People Living With an Undiagnosed Disease (PLWUD) who, despite the best efforts of their doctors and genetics specialists, have remained undiagnosed.
The PLWUD were nominated by clinicians and are from 19 countries ie. Brazil, China, Denmark, Georgia, Ghana, Hungary, India, Lithuania, Pakistan, Philippines, Spain, Singapore, Sir Lanka, South Africa, Sweden, the Netherlands, Turkey, UK and USA.
Data
At the event, participants will get access to detailed clinical information and phenotyping done with Tip2Toe, transcriptome, and genome data for the PLWUD.
The data will include:
Clinical summaries in English and phenotyping with Tip2Toe
Short and long read genome sequencing
Optical Genome Mapping
Transcriptomes
Access to clinicians involved in the patient care
Sequencing data will be pre-processed by the bioinformatics team at the Radboudumc, as well as through partner platforms.
Raw data is available for 3 months after the event for participants and partners interested in performing re-analysis.
Pioneered by Wilhelm Foundation
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