Thursday 6th June Workshop "Tools"
Workshop Captain Steven Laurie
12:00-13:00
Kickoff welcome Lunch
PhenoTips
13:00-13.05
The importance of a Diagnosis
Shirlene Badger, Global Patient Advocacy Lead Illumina
Phenotypes
13.05-13:30 Keynote Speaker
Collaborative genome diagnostics with Mosaic
Alistair Ward, University of Utah
13:30-13:50
PhenoTips: structuring data for RD diagnosis
Orion Buske, PhenoTips
13:50-14:10
GestaltMatcher API: Next-Gen Phenotyping for All Applications
Peter Krawitz, University of Bonn
14:10-14.30
PhenomAD-NDD: The Phenomics Aggregation Database of comorbidities in 51,227 paediatric individuals with
NeuroDevelopmental Disorders
Lex Dingemans, Radboudumc
14:30-15:00
Break
Tools
15:00-15:20
MARRVEL, AI-MARRVEL and ModelMatcher
Shinya Yamamoto, Baylor College of Medicine, USA
15:20-15:40
Using RNA-seq to increase diagnostics by validating or detecting pathogenic variants
Vicente Yepez the RNA guy, Technical University of Munich
15:40-16:00
Optical genome mapping for structural variant detection in UD
Alexander Hoischen, Radboudumc
16:00-16:20
Analysis of long read sequencing data
Christian Gilissen, Radboudumc
16:20-16:40
Break
Latest Innovations in RD
16:40-16:55
AI for variant interpretation in rare disease
Rocio Acuna Hidalgo, Nostos
16:55-17:10
Optical genome mapping in rare disease research and roadmap for future discoveries
Alex Hastie, Bionano
17:10-17:25
Future opportunities for rare disease discoveries with PacBio HiFi genomes
Mike Eberle, Pacbio
Undiagnosed Hackathon 2024
17:25-17.45
Data types and interpretation
Galuh Astuti, Radboudumc
17:45-18:00
Closing arguments
20:00
Networking Dinner
Wilhelm Foundation
Friday 7th June The Undiagnosed Hackathon
Master of Ceremony Alexander Hoischen
09:00
Opening of Undiagnosed Hackathon
Welcome messages
Keynote Speaker Tania Simoncelli, Chan Zuckerberg Initiative, USA
Presentation of the adults and children with undiagnosed diseases
Group photo
Time to talk to the Dutch families
10:00
Hackathon starts
13:00
Lunch
Rare Journal, Elsevier
14:00
Hackathon
17:45
Summarize of Day 1
18:45
Department/facility tour
20:00
Networking Dinner
Saturday 8th June The Undiagnosed Hackathon
09:00
Hackathon
Further investigation and questions to the families
13:00
Lunch
Wilhelm Foundation
13:45
Hackathon
17:30
Reporting and discussion on going forward
20:00
Networking Dinner
Wilhelm Foundation