VarI community of special interest

VarI SIG 2014

What: Variant Interpretation Session at the ISMB Conference 2014
When: 08:20 AM - 6:10 PM, July 12th, 2014
Where: Room 207, John B. Hynes Memorial Convention Center, Boston (MA), USA.
VarI programme

Session 1

08:20 - 08:30

Welcome from the committee

08:30 - 09:20

Highlight Speaker: Jan Korbel, EMBL Heidelberg (Germany)
Origins and consequences of structural rearrangements.

09:20 - 09:45

Haiming Tang and Paul Thomas.
PANTHER-PSEP: predicting disease-causing mutations using position specific evolutionary preservation.

09:45 - 10:10

Thomas Hopf, John Ingraham and Debora S. Marks.
Quantitative effects of genetic variants from sequence alone.

10:10 - 10:30

Coffee Break

10:30 - 10:55

Tatiana Tatarinova and Eran Elhaik
Geographic Population Structure (GPS): a novel tool to infer biogeographical origins of worldwide
human populations.

10:55 - 11:20

Pietro Di Lena, Pier Luigi Martelli, Piero Fariselli and Rita Casadio.
A new network-based method for gene enrichment analysis: detection of new biological processes
associated to OMIM diseases.

11:20 - 12:10

Highlight Speaker: Benjamin Raphael, Brown University, Providence (USA).
Algorithms for Cancer Genome Sequencing and Interpretation.

12:10 - 12:25

Company Presentation: Jennifer Hogan, BIOBASE GmbH

12:25 - 13:10

Lunch Break and Poster Session with the Authors (Hall C).

Session 2

13:20 - 14:10

Highlight Speaker: George Church, Harvard University, Boston (USA)
Testing hypotheses about genomic variation using CRISPR, Organs-on-chips, FISSEQ and

14:10 - 14:35

Aharon Brodie and Yanay Ofran.
StoP: predicting phenotypes based on SNP-pathway associations.

14:35 - 15:00

Kristin Ayers, Yevgeniy Antipin, Rong Chen and Boris Reva.
Assessment of cancer mutational burden from the 1000 genomes sequencing data.

15:00 - 15:25

Florian Gnad and Zemin Zhang.
Integrated genomic analyses of thousands of tumors reveal cancer-associated epigenetic regulators.

15:25 - 15:45

Coffee Break

15:45 - 15:50 

The MD Corner - Presented by Rachel Karchin

15:50 - 16:35

Highlight Speaker: Garry Cutting, John Hopkins University, Baltimore (USA).
Interpreting the clinical implications of DNA variants.

16:35 - 17:20

Highlight Speaker: James Potash, University of Iowa, Iowa City, (USA).
Sequence in the Service of Psychiatry

17:20 - 18:05

Round Table discussion:
Rachel Karchin, John Hopkins University, Baltimore (USA).

18:05 - 18:15

Closing remarks from the committee.