VarI-COSI 2017 Meeting Programme

10:00 - 10:10 Welcome from the committee

Session 1

10:10 - 10:40
Highlight Speaker: Burkhard Rost. Techincal University of Munich, Munich (Germany).
Common sequence variants affect molecular function more than rare variants?
10:40 - 11:00
Maximilian Miller. Rutgers University, New Brunswick (NJ).
Computational predictors fail to identify amino acid substitution effects at rheostat positions.
11:00 - 11:20
Kymberleigh Pagel. Indiana University, Bloomington (IN).
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function
genetic variants.
11:20 - 11:40
Martin Kircher. Berlin Institute of Health, Berlin (Germany).
Assessing regulatory variant effect scores by massively parallel reporter assays.
11:40 - 12:00
Emidio Capriotti. University of Bologna, Bologna (Italy).
PhD-SNPg: A webserver and lightweight tool for scoring single nucleotide variants.
12:00 - 12:20
Imane Boudellioua. King Abdullah University of Science and Technology, Thuwal (Saudi Arabia).
Phenotype-driven discovery of digenic variants in personal genome sequences.
12:20 - 12:35
Company Presentation: Anika Joeker - Qiagen.
The importance of using a most comprehensive Knowledgebase for the identification of pathogenic variants
in cancer and inherited diseases.

12:35 - 14:00

Lunch Break and Poster Session with the Authors.

Session 2
14:00 - 14:30
Highlight Speaker: Sven Bergmann. University of Lausanne, Lausanne (Switzerland).
Integration of molecular phenotypes into genome-wide association studies.
14:30 - 14:50
Cue Hyunkyu Lee. ASAN Medical Center, Seoul (South Korea)
Increasing the power of meta-analysis of genome-wide association studies to detect heterogeneous effects.
14:50 - 15:10
Kyoko Watanabe. Free University Amsterdam. Amsterdam (Netherlands)
FUMA: Functional mapping and annotation of genetic associations.
15:10 - 15:30
Anastasia Gurinovich. Boston University, Boston (MA).
PopCluster: A New Algorithm to Identify Genetic Variants with Effects that Change with Ethnicity
15:30 - 15:50
Magali Jaillard. BioMérieux, Lyon (France).
Representing Genetic Determinants in Bacterial GWAS with Compacted De Bruijn Graphs.
15:50 - 16:05
Company Presentation: Alexander Kaplun - Variantyx.
One test to rule them all: Clinical grade Whole Genome Sequencing as first-line genetic test.
16:05 - 16:30 Coffee Break
16:30 - 17:00
Highlight Speaker: Niko Beerenwinkel. Swiss Federal Institute of Technology (ETH), Zurich (Switzerland).
Network-based integration of multi-omics data for prioritizing cancer genes.
17:00 - 17:20
Matteo Manica. Swiss Federal Institute of Technology (ETH), Zurich (Switzerland).
Inferring clonal composition from multiple tumor biopsies.
17:20 - 17:40
Sarah Sandmann. Institute of Medical Informatics, Munster (Germany).
Evaluating Variant Calling Tools for Non-Matched Next Generation Sequencing Data
17:40 - 18:00
Yoichiro Nakatani. Trinity College Dublin, Dublin (Iteland).
Genomes as documents of evolutionary history: a probabilistic macrosynteny model for the reconstruction
of ancestral genomes.
18:00 - 18:10 Closing remarks from the committee.