Eilbeck Lab

Department of Biomedical Informatics, University of Utah

  • Precision medicine endeavor uses GVF to annotate personal genome

    In a paper detailing genome sequencing of an individual, GVF was used to communicate the clinical annotation of the variants: Integrating precision medicine in the study and clinical treatment of a severely mentally ill person Jason A. O’Rawe, Han Fang, Shawn Rynearson, Reid Robison,Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Martin G. Reese, Gholson J. Lyon​

  • Nashville in November

    Nicole has had her abstract entitled “Analysis of Genomic Variation Annotation” accepted to the 2013 Annual Biomedical Research Conference for Minority Students (ABRCMS).

  • GENO and SO workshop

    Last week the SO group (Karen Eilbeck, Mike Bada and Bret Heale) met with the Monarch Initiative (Chris Mungall, Melissa Haendel and Matthew Brush) in Portland, (OSHU) to discuss the integration/boundaries of the two ontologies and developed a plan for future development. This continuing collaboration will enable better genotype to phenotype annotation. Early outcomes of the workshop was the development of a set of guidelines for the annotation of individual genomes with terms from phenotype ontologies, and these guidelines have been submitted to Biosharing as a reporting guideline. The discussion included the difference between sequences and sequence features and a…

  • ClinGen Initiative

    Finally the ClinGen initiative has been officially announced. This lab is performing a bioinformatics role for the two of the three announced grants: http://www.genome.gov/27555151

  • Going to Cold Spring Harbor

    Nicole has been accepted to the Cold Spring Harbor Lab course “Programming for Biology” which happens in October. Congratulations for the achievement as this is a competitive course to be admitted to.

  • Clinical Genomic Variation multi grant kickoff

    Last week I attended the collaborative kick-off for 3  grants a U41 (Unified Clinical Genomics Database) to support ClinVar annotation and two coordinating U01 CRVR (Clinically relevant variants resource) grants. The work proposed involved coordinating and supporting the variant annotation from clinical labs, and providing the infrastructure and resources to make the data useful to a variety of community users. For example, the resource will be used for population genetics studies and as a knowledge base to support clinical decision support. On top of the scientific and informatics questions, there are also ethical considerations for such a repository such as re-identification…

  • Meta-genome sample collection

    Thank you to everyone today who volunteered naso-pharyngeal control samples to Keith and Robert’s meta-genome project.

  • July updates

    We have a few updates for the summer.

  • Phenotype collaborative exchange

    We found out this weekend that the Sequence Ontology group will be supported by the Phenotype Research Coordination Network (NSF-DEB-0956049 ) for a collaborative exchange with the Monarch Initiative at OHSU, with Melissa Haendel. The purpose of this exchange is to coordinate sequence variation terminology to provide a better ontological framework for linking genotype to phenotype.

  • Comprehensive Exams

    BMI students Keith and Nicole passed their comprehensive exams this week. Congratulations!