Eilbeck Lab

Department of Biomedical Informatics, University of Utah

  • Reed Gardner Faculty Excellence Award

    At the annual BMI awards on Friday I was shocked to win the Reed Gardner award. This is a student driven endeavor and means a lot to me. Link to photo, with the student committee Bob, Jeff, Jingran and Begum.

  • SnpEff and SO

    We (mostly Nicole) have been quietly working with Pablo Cingolani and Uma Devi Paila on mapping the SnpEff variant effect terms to SO and adding new terms where we were missing concepts. SnpEff is a variant annotation and effect prediction tool. It annotates and predicts the effects of variants on genes (such as amino acid changes). […]

  • CSHL Biology of Genomes

    Our abstract  The Utah Genome Project has been accepted for a talk at the Biology of Genomes meeting in CSHL, May 6-10th 2014. Mark Yandell will present. The Utah Genome Project (UGP) is an intramural, multi-million dollar effort to improve patient care, and facilitate research into undiagnosed diseases. Unlike the other large-scale sequencing projects currently […]

  • A few new papers

    It seems like years ago since we put together a three site team to participate in the Clarity Challenge. This contest was an incredible learning experience. We just heard that the manuscript detailing this giant effort in clinical genetic analysis has been accepted by Genome Biology: An international effort towards developing standards for best practices in […]

  • Annotation Jamboree

    My lab, in collaboration with the Yandell lab (Human Genetics) will be hosting a cancer themed annotation jamboree next week (Spring Break).                Monday March 10            from 3-5pm                Tuesday March 11            from 12-3pm                Wednesday March 12      from 12-5 pm There will be pizza. Computer lab, office suite […]

  • USTAR Genetic Discovery Program

    The USTAR Genetic Discovery Program, an initiative within the University of Utah has announced the first hire: Gabor Marth. I am pleased to Welcome Gabor to Utah, and look forward to working with him as part of the Genetic Discovery Program. I have know Gabor since I moved to the US – and currently we […]

  • 2014 Public Health Informatics Conference

    We have had our session titled “RCKMS: Delivering Reporting Specifications in the New World!”  selected for presentation at the 2014 Public Health Informatics Conference, which will be held April 29-May 1, 2014, at the Westin Peachtree Plaza Hotel in downtown Atlanta, Georgia. Looking forward to the 90 minute learning session with Catherine Staes, Shu McGarvey and […]

  • Conference Posters in the next week or so

    Jeff Duncan from the Staes lab is presenting a poster at AMIA next week: Using KAoS Ontologies to Model Policy Requirements for a Statewide Master Person Index  Jeffrey Duncan, MS, Stephen Clyde, PhD, Scott P. Narus, MD, Leslie Lenert, MD,Karen Eilbeck, PhD, Catherine Staes, BSN, MPH, PhD

  • Association for molecular pathology meeting

    Keith is presenting in a workshop “Informatics and the Human Microbiome” at the Association for Molecular Pathology meeting in Phoenix in November. He will be discussing his pipeline for the analysis of Community Acquired Pneumonia samples. 

  • 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​