350 million people live with an undiagnosed disease worldwide. Genome sequencing can provide answers for 40% of the People Living With Undiagnosed Disease (PLWUD) 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 PLWUD who, despite the best efforts of their doctors and genetics specialists, have remained undiagnosed.

The PLWUD will be nominated by clinicians worldwide.

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 whole genome sequencing
• Optical Genome Mapping
• Transcriptomes
• Access to clinicians involved in the patient care

Sequencing data will be pre-processed by the bioinformatics team 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.