Karen Eilbeck, MSc, PhD

Research Interests

  • Biomedical Informatics
  • Genomics
  • Genetic Variant Analysis
  • Genome Annotation
  • Knowledge Representation
  • Ontology


  • English

Academic Information

  • Departments: Biomedical Informatics - Professor, Human Genetics - Adjunct Associate Professor

Academic Office Information

  • 801-585-9934
  • Biomedical Informatics
    421 Wakara Way, Room: Suite 140
    Salt Lake City, UT 84108

Academic Bio

Dr. Karen Eilbeck earned both her M.Sc. degree in Bioinformatics and her Ph.D. in Biochemistry at the University of Manchester in England. She did postdoctoral training in the Department of Computer Science at the University of Manchester. She is a Professor in the University of Utah’s Biomedical Informatics Department. Prior to moving to Utah, she was a scientist at Celera Genomics in Maryland, and at the Berkeley Drosophila Genome Project at U.C. Berkeley.

Dr. Eilbeck has served as the vice-chair of Education in the Department of BMI. She teaches the BMI Foundations of Bioinformatics core course to first year graduate students Within the School of Medicine Dr. Eilbeck sits on the medical school curriculum committee, is a medical school domain expert for informatics, and together with Dr. Adrienne Carey co-directs the Phase-2 medical school course: Host and Defense. She has recently completed a one-year certificate in Educational Scholarship with the University of Utah Academy of Health Science Educators.

Dr. Eilbeck also maintains an active lab where the main focus is knowledge representation for genomic data. She has mentored successful PhD & MS students and post docs who have gone on to academic, government, and industry positions. Her expertise is in managing and accessing biological data in order to better understand diseases. Her research involves the annotation of biological sequence, in particular genome sequence. Genomic annotation is the process of adding further knowledge to the raw sequence data, such as the location of genes, the functions of the gene products, and the positions of known mutations. Dr. Eilbeck maintains the Sequence Ontology, an open-source project for organizing and naming the parts of genomic sequence and the relationships between these parts. This project has unified the vocabulary used to annotate genomes, enabling computational exploration of data from many sources. It forms the terminology used by many genome software programs and model organism communities. She has worked closely with the ClinGen Initiative where she developed ClinVar Miner – a tool for clinical genetics professionals to better understand ClinVar submissions. She is also a member of the clinical domain working group for errors of inborn metabolism.

More information about Dr. Eilbeck can be found at: http://eilbeck-lab.topaz.genetics.utah.edu

Google Scholar: http://scholar.google.com/citations?hl=en&user=ccf6djEAAAAJ

Research Statement

Quality control of genomic annotations; Management and analysis of personal genomics data; Ontology development to structure biological, genomic and phenotypic data

Education History

Type School Degree
Postdoctoral Training University of Manchester, Department of Computer Science, Genome Information Management System
Postdoctoral Training
Doctoral Training University of Manchester
Graduate Training University of Manchester
Undergraduate University of Salford
Biological & Biochemical Sciences

Global Impact

Education History

Type School Degree Country
Postdoctoral Training University of Manchester, Department of Computer Science, Genome Information Management System
Postdoctoral Training United Kingdom
Doctoral Training University of Manchester
Ph.D. United Kingdom
Graduate Training University of Manchester
M.Sc. United Kingdom
Undergraduate University of Salford
Biological & Biochemical Sciences
B.Sc. United Kingdom

Selected Publications

Journal Article

  1. Ruiz-Schultz N, Sant D, Norcross S, Dansithong W, Hart K, Asay B, Little J, Chung K, Oakeson KF, Young EL, Eilbeck K, Rohrwasser A (2021). Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening. Genet Med, 23(4), 767-776.
  2. Lario R, Hasley S, White SA, Eilbeck K, Soley R, Huff S, Kawamoto K (2021). Utilization of BPM+ Health for the Representation of Clinical Knowledge: A Framework for the Expression and Assessment of Clinical Practice Guidelines (CPG) Utilizing Existing and Emerging Object Management Group (OMG) Standards. AMIA Annu Symp Proc, 2020, 687-696.
  3. Meja-Almonte C, Busby SJW, Wade JT, van Helden J, Arkin AP, Stormo GD, Eilbeck K, Palsson BO, Galagan JE, Collado-Vides J (2020). Redefining fundamental concepts of transcription initiation in bacteria. Nat Rev Genet, 21(11), 699-714.
  4. Watkins M, Eilbeck K (2020). FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results. AMIA Jt Summits Transl Sci Proc, 2020, 683-692.
  5. Watkins M, Rynearson S, Henrie A, Eilbeck K (2020). Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation. AMIA Annu Symp Proc, 2019, 1226-1235.
  6. Desvignes T, Loher P, Eilbeck K, Ma J, Urgese G, Fromm B, Sydes J, Aparicio-Puerta E, Barrera V, Espn R, Thibord F, Bofill-De Ros X, Londin E, Telonis AG, Ficarra E, Friedlnder MR, Postlethwait JH, Rigoutsos I, Hackenberg M, Vlachos IS, Halushka MK, Pantano L (2019). Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API. Bioinformatics, 36(3), 698-703.
  7. Duncan J, Eilbeck K, Narus SP, Clyde S, Thornton S, Staes C (2015). Building an Ontology for Identity Resolution in Healthcare and Public Health. OJPHI, 7(2), e219.
  8. Welch BM, Eilbeck K, Del Fiol G, Meyer LJ, Kawamoto K (2014). Technical desiderata for the integration of genomic data with clinical decision support. J Biomed Inform, 51, 3-7.
  9. Huang J, Dang J, Borchert GM, Eilbeck K, Zhang H, Xiong M, Jiang W, Wu H, Blake JA, Natale DA, Tan M (2014). OMIT: dynamic, semi-automated ontology development for the microRNA domain. PLoS ONE, 9(7), e100855.
  10. Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M (2014). Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet, 94(4), 599-610.
  11. Brandon M Welch, Salvador Rodriguez Loya, Karen Eilbeck and Kensaku Kawamoto (2014). A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information. Journal of Personalized Medicine, 4(2), 176-199.
  12. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, Gonzalez-Lamuno D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM (2014). An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol, 15(3), R53.
  13. Mungall CJ, Batchelor C, Eilbeck K (2011). Evolution of the Sequence Ontology terms and relationships. J Biomed Inform, 44(1), 87-93.
  14. Moore B, Fan G, Eilbeck K (2010). SOBA: sequence ontology bioinformatics analysis. Nucleic Acids Res, 38(Web Server issue), W161-4.
  15. Reese MG, Moore B, Batchelor C, Salas F, Cunningham F, Marth GT, Stein L, Flicek P, Yandell M, Eilbeck K (2010). A standard variation file format for human genome sequences. Genome Biol, 11(8), R88.
  16. Eilbeck K, Moore B, Holt C, Yandell M (2009). Quantitative measures for the management and comparison of annotated genomes. BMC Bioinformatics, 10, 67.
  17. Eilbeck K, Lewis SE, Mungall CJ, Yandell M, Stein L, Durbin R, Ashburner M (2005). The Sequence Ontology: a tool for the unification of genome annotations. Genome Biol, 6(5), R44.


  1. Duncan J, Narus SP, Clyde S, Eilbeck K, Thornton S, Staes C (2015). Birth of identity: understanding changes to birth certificates and their value for identity resolution. [Letter to the editor]. J Am Med Inform Assoc, 22(e1), e120-9.