Session 1

08:10 - 08:20
 

Welcome from the committee
 

08:20 - 09:10
 

Highlight Speaker: Nuria Lopez-Bigas, University Pompeu Fabra, Barcelona (Spain).
Analyzing thousands of tumor genomes to identify cancer drivers and their targeted therapeutic opportunities.

09:10 - 09:35
 

Ilya E. Vorontsov, Ivan V. Kulakovskiy, Grigory Khimulya, Darya Nikolaeva and Vsevolod J. Makeev.
Sequence analysis of regulatory variants reveals selection pressure on somatic mutations in breast cancer.

09:35 - 10:00
 
 

Sean Landman, Michael Steinbach, Vipin Kumar, Scott Dehm, Kevin Silverstein and Tae Hyun Hwang.
iSHEAR: An efficient computational tool to detect genetic variants and estimate intratumor heterogeneity linked with cancer development, progression, and therapy resistance.

10:00 - 10:25 
 
 

Jaroslav Bendl, Jan Štourač, Miloš Musil, Jaroslav Zendulka, Jiří Damborský and Jan Brezovský.
PredictSNP 2.0: A unified platform for prediction of disease-related mutations in entire human genome.
 

10:25 - 10:45
 

Coffee Break
 

10:45 - 11:00
 

Short Talk: Mark Rogers, Hashem Shihab, Tom Gaunt and Colin Campbell.
Sequential data selection for predicting the pathogenic effects of sequence variation.

11:00 - 11:15
 

Short Talk: Ronald Hause, Vanessa Gray, Jens Luebeck, Jay Shendure and Douglas Fowler.
Envision: leveraging large-scale protein mutagenesis data for variant effect prediction.

11:15 - 12:05
 

Highlight Speaker: Søren Brunak, Technical University of Denmark, Lyngby (Denmark).
Multi-morbidities and disease trajectories from data mining of 6 million electronic patient records.

12:05 - 12:20
 

Company Presentation: Alex Kaplun, QIAGEN
PGMD: a comprehensive manually curated pharmacogenomic database.

12:20 - 13:00

Lunch Break and Poster Session with the Authors.

Session 2

13:10 - 14:00
 

Highlight Speaker: Yves Moreau, KU Leuven, Leuven (Belgium).
Variant prioritization by genomic data fusion.

14:00 - 14:25
 

Pier Luigi Martelli, Piero Fariselli, Giulia Babbi and Rita Casadio.
The effect of OMIM disease-related variations on protein stability: a large-scale investigation.

14:25 - 14:50
 

Alex Cornish, Ioannis Filippis, Alessia David and Michael Sternberg.
Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types.

14:50 - 15:05
 

Short Talk: Eran Elhaik.
Inferring the biogeographical origin of Druze with the Geographic Population Structure (GPS).

15:05 - 15:20
 
 

Short Talk: Steven Brenner.
Diagnostic role of exome sequencing in immune deficiency disorders.
 

15:20 - 15:40
 

Coffee Break
 

15:40 - 15:45 

Special Session

15:45 - 16:30
 

Highlight Speaker: Joris Veltman, Radboud University, Nijmegen (Netherlands).
Large-scale exome and genome sequencing in genetic disease; Impact for research and diagnostics.

16:30 - 17:15
 
 

Highlight Speaker: Anna Goldenberg, University of Toronto, Toronto (Canada).
Disease Mechanisms Discovery by Integrating Exome and Transcriptome Data.
 

17:15 - 18:05
 

Round Table discussion
 

18:00 - 18:05

Closing remarks from the committee.