Join us in Hawaii! Innovative approaches to combining genotype, phenotype, epigenetic, and exposure data for precision diagnostics
Pacific Symposium on Biocomputing January 4-8, 2016 at the Fairmont Orchid Resort, Kohala Coast, The Big Island of Hawaii, USA http://psb.stanford.edu/callfor/papers/cfp-g2p/ Submission deadline: July 27, 2015 Despite the increasing prevalence of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) in clinical settings, it is still very difficult to determine the causal variant for any given disease and most such explorations fall into research contexts rather than routine clinical diagnostics. To truly realize precision medicine, we must embrace the idea that all diseases are rare in that each person has their own diversity of genotypic, phenotypic, and environmental variation. This session will explore problems in combining genotype and phenotype data to support rare disease and/or precision diagnostics. Examples of topics and problems within the scope of this session: ● Methods for integrating genomic algorithms with phenotypic matching algorithms. ● Modeling interactions between phenotypes and environment ● Models that include pedigree data (e.g. data from family members) ● Novel methodologies for prioritizing low frequency variants found via WGS or WES ● Evaluation and comparison of existing methods and/or development of gold standard datasets to do so ● Integration of evolutionary and/or non-traditional animal genotype-phenotype association ● Semantic inference techniques for genotype, phenotype, or environmental considerations ● NLP and other feature extraction methods for curation of variant identification, mapping, and association to phenotype and/or environmental factors ● Application of somatic variation approaches towards germline analyses ● Phenotypic outcomes of signaling network perturbation ● Computational databases, software, and other resources for exploration and evaluation of genotype-to-phenotype associations ● Use of publically available high-throughput datasets (mod/ENCODE, etc.) towards rare disease studies Important Dates: http://psb.stanford.edu/keydates/ Manuscript submission: July 27, 2015 Registration opens: August 1, 2015 Notification to authors: September 14, 2015 Camera-ready papers due: October 5, 2015 Abstract deadline for posters: November 17, 2015 Conference: January 4 - 8, 2015 Session Organizers: Melissa A Haendel, Oregon Health and Sciences University Maricel Kann, University of Maryland, Baltimore County Nicole L Washington, Lawrence Berkeley National Laboratory There are a limited number of travel awards to help PSB attendees. Applications can be made starting August 1, 2015. For more information http://psb.stanford.edu/callfor/papers/cfp-g2p/ Melissa Haendel, [email protected]<mailto:[email protected]> Dr. Melissa Haendel Associate Professor Ontology Development Group, OHSU Library www.ohsu.edu/library/ontology<http://www.ohsu.edu/library/ontology> Department of Medical Informatics and Clinical Epidemiology Oregon Health & Science University [email protected]<mailto:[email protected]> skype: melissa.haendel 503-407-5970
