The lab is located in the University of Utah Research Park.

421 Wakara Way, Suite 140,
Salt Lake City, Utah

801.581.4080     FAX 801.581.4297          

Karen Eilbeck, PhD
Associate Professor of Biomedical Informatics
Adjunct in Human Genetics


skype: kareneilbeck

Phone: 801 585 9934

twitter: uubmibioinf

Research profile


Shawn Rynearson
Scientific Programmer

Shawn works for the Utah Genome Project, and he is a member of the ClinGen Datamodel working group and the GA4GH variant model group.

Nicole Ruiz

PhD Graduate Student – NLM

Nicole is interested in genomic variant annotation.

Amy Sheide

PhD Graduate Student

Amy Sheide has a background in critical care nursing as well as a Master in Public health and is pursuing a PhD in BMI to gain expertise in foundational principles of informatics as well as explore emerging issues (such as the collection, integration and interpretation of biomedical datasets). She believes that obtaining a PhD is a key asset in the curation and application of knowledge through investigational research and problem solving. Currently, her work is focused on operationalizing standard terminologies and understanding structured data. This work is critical within industry areas such as interoperability and secondary data use. Her research covers a broader subject matter than standard terminologies, fueling her ability to solve industry issues and contribute to the learning health system. She believes that it is extremely important not only to gain expertise in BMI but to apply BMI research results in evidence based practice with the goal of delivering cost effective quality patient care within efficient health systems. As technology and medicine advance, there is enormous opportunity for research to influence practice and practice to influence research. Achieving and contributing to bi-directional data driven care is the reason that Amy’s research is focused on combining patient phenotype data with existing biomedical ontologies in the identification of disease causing variants in a clinical setting as well as obtaining insights from emerging RNAseq datasets for the treatment of disease.

Jason Singer PhD

Analyst for UGP and CCTS projects, Jason organizes phenotype data and performs genome analysis over large cohorts and pedigrees.

Michael Sinclair PhD

NLM Post Doctoral Fellow

Michael is an NLM postdoctoral trainee currently pursuing a Masters in Biomedical Informatics as part of his training. He has a PhD in Neuroscience and a Bachelors in Chemical Engineering. He is interested in leveraging the power of ontologies for the unification of knowledge across all fields in biological and biomedical science.

 Alex Henrie

Graduated Masters Student – graduated with Masters, titled:

A versatile data query tool for the ClinVar database. Alex now works in the lab as a developer.

Michael Watkins


PhD student starting fall 2017

 Nick Consiglio


Nick is a Masters student in BMI loosely affiliated with the lab.

Past Members

Keith Simmon PhD

Graduated PhD Student – Pathology fellowship, and recipient of the Richard A. and Carol M. Fay Endowed Graduate Fellowship. Keith was part of the Taxonomer project for metagenomic analysis. Keith currently works for ARUP.

Shale Dames PhD
Shale graduated with a PhD, titled:

Development of a Clinical Next generation Sequencing Assay for Mitochondrial Disorders. Shale currently works at ARUP.

Barry Moore
Senior Research Specialist/ Director of genomic analysis for Utah Genome Project.

Phone: 801 585 3543

Lila Mullany

Masters student graduated with a Masters titled:

Investigation of The Effectiveness and Usability of Bioinformatics Tools Utilized in The Analysis of miRNAs Within Colorectal Cancer Biological Pathways

Lila is working for the Department of Epidemiology.

 Alex Macharia 

Masters student – graduated with Masters titled: Visualizing conflicting data in ClinVar. Alex works at

Paris Vail

Graduated with Thesis Masters degree titled:

Development and validation of a linkage analysis program to analyze small, single-variant pedigrees for use in clinical variant classification.

Guozhen (Ginger) Fan

Research Assistant


Begum Durgahee

Graduate Student – Fulbright fellow. Begum moved to the Department of Epidemiology.

MeiYee Law PhD
Post Doc now at Jax


People we work with

  • Barry Moore Director of genomic analysis for Utah Genome Project.
  • Mike Bada Post Doc in the Larry Hunter lab,  working on the Sequence Ontology
  • Colin Batchelor Royal Society of Chemistry – sometimes works on the Sequence Ontology
  • Chris Mungall LBNL – Chris is the core of all things OBO
  • Fiona Cunningham – EBI variant annotation person working on GVF and SO terms
  • Graham Ritchie – EBI variant annotation person develops really useful SO terms
  • Ira Lubin – CDC
  • ClinGen and ClinVar
  • Jingshan Huang – University South Alabama
  • Ken Kawamoto and Brandon Welch – BMI