Session 1

10:30 - 10:40
 

Opening remarks
 

10:40 - 11:00
 
 

Danielle Gutman. University of Pennsylvania, Philadelphia (PA), USA.
Exploring the landscape of regulatory uORFs in BMPR2 and their potential as therapeutic targets.
 

11:00 - 11:40
 
 

Keynote talk: Jun Cheng. Google DeepMind, London, United Kingdom.
Beyond the sequence: interpreting missense variants with structure context.
 

11:40 - 12:00
 
 

Wim Vranken. Vrije Universiteit Brussel, Brussel, Belgium.
Capturing biophysical and protein language model constraints for an improved assessment of the impact of mutations on protein function and stability

12:00 - 12:10
 

Burkhard Rost. Technical University of Munich, Munich, Germany.
VespaG: Expert-guided protein Language Models enable accurate and blazingly fast fitness prediction

12:10 - 12:20
 

Oriol Gracia I Carmona. University College London, London, United Kingdom.
Addressing biases in large language models for variant impact prediction in macro proteins

12:20 - 14:20
 

Lunch Break
 

Session 2

14:20 - 15:00
 
 

Keynote talk: Heidi Rehm. Broad Institute of MIT, Cambridge (MA), USA.
Clinical classification of variation for disease causality.
 

15:00 - 15:10
 

Robert Kueffner. GeneDx, Gaithersburg, (MD), USA.
Ensemble Prediction of the Clinical Impact of Missense Variants Substantially Decreases VUS Rate in Genetic Testing

15:10 - 15:20
 

Dina Issakova. University of Pennsylvania, Philadelphia (PA), USA.
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-seq data.

15:20 - 15:40
 

Kivilcim Ozturk. University of California, San Diego (CA),USA.
Reclassifying variants of uncertain significance with transcriptional profiling.

15:40 - 16:00
 

Thomas Renne. University of Montreal, Montreal (QC), Canada.
Metacell burden: A method to quantify the effects on neurodevelopmental disorders of rare genomic variants aggregated across brain cells.

16:00 - 16:40
 

Coffee Break
 

16:40 - 17:00
 

Patrick Wall. University of Califoirnia, San Diego (CA), USA.
Representing Mutations for Predicting Cancer Drug Response.

17:00 - 17:10
 

Marina Abakarova. Sorbonne University, Paris, France.
Assessing lethal missense mutations and polymorphism in Drosophila melanogaster with an evolutionary-informed model.

17:10 - 17:20
 

Thibault Latrille. University of Lausanne, Lausanne, Switzerland.
A phylogenetic mutation-selection model predicts fitness effects of mutations in extant mammals.

17:20 - 17:40
 

Pedro Tomaz da Silva. Technical University of Munich, Munich, Germany.
DNA language models reveal the architecture of nucleotide dependencies in genomes.

17:40 - 18:00

Closing remarks.