Eilbeck Lab

Department of Biomedical Informatics, University of Utah

  • two new papers

    Duncan J, Eilbeck K, Narus SP, Clyde S, Thornton S, Staes C. (2015). Building an Ontology for Identity Resolution in Healthcare and Public Health. Online Journal of Public Health Informatics, 7(2).ISSN 1947-2579. doi:10.5210/ojphi.v7i2.6010. Jeff Duncan defended his doctoral work this summer and had a second paper from this work come out in OJPHI. Cunningham F, Moore B, Ruiz-Schultz N, Ritchie GR, Eilbeck K. Improving the Sequence Ontology terminology for genomic variant annotation.J Biomed Semantics. 2015 Jul 31;6:32. doi: 10.1186/s13326-015-0030-4. eCollection 2015. This long awaited short paper details the terms developed with the VEP group at the EBI to describe variant consequences…

  • Metagenomics analysis for infectious disease

    Robert Schlaberg talks about the Taxonomer project on the U of U’s  scope radio. Taxononer is a metagenomic analysis tool developed in collaboration with Robert Schlaberg, Mark Yandell and my group with input from Primary Children’s hospital and the CDC. PhD students Steven Flygare (Human Genetics) and Keith Simmon (BMI) have driven the development of […]

  • GFVO: the Genomic Feature and Variation Ontology.

    After much work on behalf of Joachim Baran, the GVFO paper (GFVO: the Genomic Feature and Variation Ontology) is now available from PeerJ. Joachim started this project while at OICR and continued after he moved to the US. The project started as an ontology to describe the genomic features of GVF and GFF3 files and […]

  • ClinGen paper now out

    ClinGen–the Clinical Genome Resource Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum, Sharon E Plon, Erin M Ramos, Stephen T Sherry, Michael S Watson; ClinGen PMID: 26014595 PMCID: PMC4474187 DOI: 10.1056/NEJMsr1406261 Abstract On […]

  • Three students graduate with non-thesis masters

    Congratulations to Alex Henrie, Alex Macharia and Lila Mullany Who graduated from my lab at the end of the Spring semester after completing capstone projects.

  • MCAD poster at ClinGen Decipher

    Metabolic Phenotypes in the ClinGen Repositories Karen Eilbeck1, Donna Maglott2, Melissa Landrum2, Sara Velden3, MarziaPasquali3, Elaine Lyon3, Nicole Ruiz1, William Craigen4, Robert Steiner5,  Michael Murray6, David T. Miller7, Rong Mao3 Background Data sharing and reuse is a goal of clinical variant databases such as the NCBI’s ClinVar database. To achieve this, the data-model and data-dictionary […]

  • Abstracts accepted at ACMG

    We have had several abstracts accepted for presentation at the ACMG conference to be held in SLC in March.

  • AMIA paper

    Catherine Staes is presenting our paper about the CDC’s reportable condition knowledge management system at the Ontology, Terminology, and Semantics, which is scheduled for November 18, 2014 from 3:30 PM to 5:00 PM at AMIA.

  • USTAR confluence meeting

    My lab attended the USTAR confluence meeting this week and Keith presented a poster titled  Taxonomer: Rapid and accurate assessment of microorganisms from clinical specimens using signature sequences. From the USAR site: In March 2006, the Utah State Legislature passed Senate Bill 75 creating USTAR. This measure provided funding for strategic investments at the University of Utah […]

  • IGNITE consortium

    In September I went to DC to the IGNITE network consortium meeting, as part of the ESP for the NHGRI. I was really impressed with the projects presented at this meeting, and see the future of genomic medicine emerging.