VarI community of special interest

VarI COSI 2018

What: Variant Interpretation Session at the ISMB Conference 2018
When: 10:15 AM - 6:00 PM, July 8th, 2018
Where: Room Columbus KL, Hyatt Regency Hotel, Chicago (IL), USA.

Session 1

10:15 - 10:20

Welcome from the committee

10:20 - 10:30

Elizabeth White. University of Colorado, Denver (CO).
Integration of protein modifications, localizations, and pathways in a biological knowledge base.

10:30 - 11:00

Invited Speaker: Bonnie Berger. Massachusetts Institute of Technology, Cambridge (MA).
Genomic Crowdsourcing with Privacy.

11:00 - 11:20

Yoonjoo Choi. Korea Advanced Institute of Science and Technology, Daejeon, (South Korea).
DisruPPI: Structure-based computational redesign algorithm for protein binding disruption.

11:20 - 11:40

Maximilian Miller. Rutgers University, New Brunswick (NJ).
Identifying protein positions for variation driven functional tuning.

11:40 - 12:00

Barthélémy Caron. Institute Imagine, Paris (France).
Prediction of non-coding variants causing Mendelian diseases through an integrative supervised
learning approach mining signals of ongoing purifying selection in humans.

12:00 - 12:20

Adriana Sperlea. University of California, Los Angeles (CA).
Systematic Discovery of Conservation States for Single-Nucleotide Annotation of the Human Genome.

12:20 - 12:30

Fabrizio Pucci. Free University of Brussels (ULB), Brussels (Belgium).
Probing the effect of mutations on the interactome.

12:30 - 12:45

Company Presentation: Jennifer Poitras - Qiagen.
Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical
Insight (QCI) Interpret.

12:45 - 14:00

Lunch Break and Poster Session with the Authors.

Session 2

14:00 - 14:10

Farhad Hormozdiari. University of California, Los Angeles (CA).
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits.

14:10 - 14:40

Invited Speaker: Mona Singh. Princeton University, Princeton (NJ).
Variation in protein interactions, with applications to disease.

14:40 - 15:00

Lisa Gai. University of California, Los Angeles (CA).
Increasing the power of meta-analysis of genome-wide association studies to detect heterogeneous effects.

15:00 - 15:20

Poulami Chaudhuri. Innovation Lab, Tata Consultancy Services (India)
An approach to discover branchpoint variants and assess the functional consequences.

15:20 - 15:40

Rachel Marty. University of California, San Diego (CA).
Computational modeling of genomic immune variation to deduce role of MHC Class II in cancer
susceptibility and evolution

15:40 - 15:50

Emidio Capriotti. University of Bologna, Bologna (Italy).
Predicting gene expression changes in E. coli from mRNA sequence information.

15:50 - 16:05

Company Presentation: Alexander Kaplun - Variantyx.
Detection of pathologic short tandem repeat extensions using Whole Genome Sequencing.

16:05 - 16:40

Coffee Break

16:40 - 16:50

Cong Ma. Carnegie Mellon University. Pittsburgh (PA).
SQUID: Transcriptomic structural variation detection from RNA-seq.

16:50 - 17:20

Invited Speaker: Olga Troyankaya. Princeton University, Princeton (NJ).
Decoding the human genome with deep learning models.

17:20 - 17:40

Hsuan-Lin Her. Taipei Medical University, Taipei (Taiwan).
A pan-genome-based machine learning approach for predicting antimicrobial resistance activities of the Escherichia coli strains.

17:40 - 18:00

Francisco De La Vega. Fabric Genomics Inc., Oakland (CA). Phenotype-driven variant prioritization significantly improves over impact and prevalence scores in a large-scale analysis of 2,408 cases of Mendelian disease diagnostics by whole-genome sequencing of ancestral genomes.

18:00 - 18:10

Closing remarks from the committee.