VarI community of special interest

VarI COSI 2017

What: Variant Interpretation Session at the ISMB/ECCB Conference 2017
When: 10:00 AM - 6:00 PM, July 24th, 2017
Where: Hall IA, Prague Convention Center, Prague, Czech Republic.

Session 1

10:00 - 10:10

Welcome from the committee

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.