VarI-COSI 2018 Meeting Programme

10:15 - 10:20 Welcome from the committee


Session 1

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.