Agenda 2024

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