Session 1

11:10 - 11:20
 

Opening remarks
 

11:20 - 12:00
 
 

Keynote talk: Alexander Sasse. Heidelberg University, Heidelberg, Germany.
Enhancing multi-task CNNs for regulatory genomics through allelic and high-resolution training.
 

12:00 - 12:20
 

Lindsey Plenderleith. Roslin Institute, University of Edinburgh, United Kingdom.
Combining massively parallel reporter assays and graph genomics to assay the regulatory effects of indels and structural variants.

12:20 - 12:30
 

Ruyi Chen. The University of Queensland, Australia.
Multilingual model improves zero-shot prediction of disease effects on proteins.

12:30 - 12:40
 

Marco Anteghini. Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
X-MAP: Explainable AI Platform for Genetic Variant Interpretation.

12:40 - 12:50
 

Alexander Gress. Helmholtz Institute for Pharmaceutical Research Saarland (HIPS), Germany.
StructGuy: Data leakage free prediction of functional effects of genetic variants..

12:50 - 13:00
 

Kilian Salomon. Berlin Institute of Health at Charité (BIH), Germany.
Functional characterization of standing variation around disease-associated genes using massively parallel reporter assays.

13:00 - 14:00
 

Lunch Break
 

Session 2

14:00 - 14:40
 
 

Keynote talk: Ellen McDonagh. EMBL - European Bioinformatics Institute, Hinxton, United Kingdom
Variant Interpretation at scale, for safer and more effective disease treatment.
 

14:40 - 15:00
 

Thomas Renne. Université de Montréal, Montréal (Quebec), Canada.
scFunBurd: Quantifying the cellular liability for complex disorders of all rare gene-disrupting variants..

15:00 - 15:20
 

Magdalena Strauss. University of Exeter, Exeter, United Kingdom.
Biostatistical approaches to single-cell perturbation screens to create a prospective map of mutational impact.

15:20 - 15:30
 

Ning Shen. Zhejiang University, China.
SpliceTransformer predicts tissue-specific splicing linked to human diseases.

15:30 - 15:40
 

Dennis Hecker. Goethe University, Frankfurt, Germany.
Cell type-specific epigenetic regulatory circuitry of coronary artery disease loci.

15:40 - 15:50
 

Ritwiz Kamal. Indian Institute of Technology Madras, India.
MultiPopPred: A Trans-Ethnic Disease Risk Prediction Method, and its Evaluation on Low Resource Populations.

15:50 - 16:00
 

Huijiao Yang. Denmark Technical University, Denmark.
Rethink gender as confounder in non linear PRS for human height prediction.

16:00 - 16:40
 

Coffee Break
 

16:40 - 17:20
 
 

Keynote talk: Andrew Lawson. Wellcome Sanger Institute, Hinxton, United Kingdom
Somatic mutations in normal tissues.
 

17:20 - 17:40
 

Michal Linial. The Hebrew University of Jerusalem, Jerusalem, Israel.
Revisiting Cancer Predisposition: Identifying Altered Genes with Protective and Recessive Effects.

17:40 - 17:50
 

Antoine Favier. Imagine Institute, Paris, France.
OBT: A gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

15:00 - 18:00

Closing remarks.