Karen Eilbeck - Publications

Human genetics, Eccles Institute of Human Genetics University of Utah and School of Medicine, USA 

46 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Flygare S, Hernandez EJ, Phan L, Moore B, Li M, Fejes A, Hu H, Eilbeck K, Huff C, Jorde L, G Reese M, Yandell M. The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. Bmc Bioinformatics. 19: 57. PMID 29463208 DOI: 10.1186/S12859-018-2056-Y  0.44
2017 Schlaberg R, Ampofo K, Tardif KD, Stockmann C, Simmon KE, Hymas W, Flygare S, Kennedy B, Blaschke A, Eilbeck K, Yandell M, McCullers JA, Williams DJ, Edwards K, Arnold SR, et al. Human Bocavirus Capsid Messenger RNA Detection in Children With Pneumonia. The Journal of Infectious Diseases. 216: 688-696. PMID 28934425 DOI: 10.1093/Infdis/Jix352  0.44
2017 Eilbeck K, Quinlan A, Yandell M. Settling the score: variant prioritization and Mendelian disease. Nature Reviews. Genetics. PMID 28804138 DOI: 10.1038/Nrg.2017.52  0.44
2017 Schlaberg R, Queen K, Simmon K, Tardif K, Stockmann C, Flygare S, Kennedy B, Voelkerding K, Bramley A, Zhang J, Eilbeck K, Yandell M, Jain S, Pavia AT, Tong S, et al. Viral Pathogen Detection by Metagenomics and Pan Viral Group PCR in Children with Pneumonia Lacking Identifiable Etiology. The Journal of Infectious Diseases. PMID 28368491 DOI: 10.1093/Infdis/Jix148  0.44
2016 Flygare S, Simmon K, Miller C, Qiao Y, Kennedy B, Di Sera T, Graf EH, Tardif KD, Kapusta A, Rynearson S, Stockmann C, Queen K, Tong S, Voelkerding KV, Blaschke A, ... ... Eilbeck K, et al. Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling. Genome Biology. 17: 111. PMID 27224977 DOI: 10.1186/S13059-016-0969-1  0.36
2016 Huang J, Eilbeck K, Smith B, Blake JA, Dou D, Huang W, Natale DA, Ruttenberg A, Huan J, Zimmermann MT, Jiang G, Lin Y, Wu B, Strachan HJ, He Y, et al. The Non-Coding RNA Ontology (NCRO): a comprehensive resource for the unification of non-coding RNA biology. Journal of Biomedical Semantics. 7: 24. PMID 27152146 DOI: 10.1186/S13326-016-0066-0  0.36
2016 Graf EH, Simmon KE, Tardif KD, Hymas W, Flygare S, Eilbeck K, Yandell M, Schlaberg R. Unbiased Detection of Respiratory Viruses Using RNA-seq-Based Metagenomics: A Systematic Comparison to A Commercial PCR Panel. Journal of Clinical Microbiology. PMID 26818672 DOI: 10.1128/Jcm.03060-15  0.36
2016 Aziz A, Kawamoto K, Eilbeck K, Williams MS, Freimuth RR, Hoffman MA, Rasmussen LV, Overby CL, Shirts BH, Hoffman JM, Welch BM. The Genomic CDS Sandbox: An Assessment Among Domain Experts. Journal of Biomedical Informatics. PMID 26778834 DOI: 10.1016/J.Jbi.2015.12.019  0.36
2016 Huang J, Eilbeck K, Smith B, Blake JA, Dou D, Huang W, Natale DA, Ruttenberg A, Huan J, Zimmermann MT, Jiang G, Lin Y, Wu B, Strachan HJ, De Silva N, et al. The development of non-coding RNA ontology International Journal of Data Mining and Bioinformatics. 15: 214-232. DOI: 10.1504/IJDMB.2016.077072  0.36
2015 Desvignes T, Batzel P, Berezikov E, Eilbeck K, Eppig JT, McAndrews MS, Singer A, Postlethwait JH. miRNA Nomenclature: A View Incorporating Genetic Origins, Biosynthetic Pathways, and Sequence Variants. Trends in Genetics : Tig. 31: 613-26. PMID 26453491 DOI: 10.1016/J.Tig.2015.09.002  0.36
2015 Thibault JC, Roe DR, Eilbeck K, Cheatham Iii TE, Facelli JC. Development of an informatics infrastructure for data exchange of biomolecular simulations: Architecture, data models and ontology. Sar and Qsar in Environmental Research. 26: 577-93. PMID 26387907 DOI: 10.1080/1062936X.2015.1076515  0.36
2015 Cunningham F, Moore B, Ruiz-Schultz N, Ritchie GR, Eilbeck K. Improving the Sequence Ontology terminology for genomic variant annotation. Journal of Biomedical Semantics. 6: 32. PMID 26229585 DOI: 10.1186/S13326-015-0030-4  0.36
2015 Baran J, Durgahee BS, Eilbeck K, Antezana E, Hoehndorf R, Dumontier M. GFVO: the Genomic Feature and Variation Ontology. Peerj. 3: e933. PMID 26019997 DOI: 10.7717/Peerj.933  0.36
2015 Dames S, Eilbeck K, Mao R. A high-throughput next-generation sequencing assay for the mitochondrial genome. Methods in Molecular Biology (Clifton, N.J.). 1264: 77-88. PMID 25631005 DOI: 10.1007/978-1-4939-2257-4_8  0.36
2015 Duncan J, Narus SP, Clyde S, Eilbeck K, Thornton S, Staes C. Birth of identity: understanding changes to birth certificates and their value for identity resolution. Journal of the American Medical Informatics Association : Jamia. 22: e120-9. PMID 25080533 DOI: 10.1136/Amiajnl-2014-002774  0.36
2015 Huang J, Gutierrez F, Dou D, Blake JA, Eilbeck K, Natale DA, Smith B, Lin Y, Wang X, Liu Z, Tan M, Ruttenberg A. A semantic approach for knowledge capture of MIcroRNA-Target gene interactions Proceedings - 2015 Ieee International Conference On Bioinformatics and Biomedicine, Bibm 2015. 975-982. DOI: 10.1109/BIBM.2015.7359816  0.36
2015 Huang J, Eilbeck K, Blake JA, Dou D, Natale DA, Ruttenberg A, Smith B, Zimmermann MT, Jiang G, Lin Y, Wu B, He Y, Zhang S, Wang X, Zhang H, et al. A domain ontology for the Non-Coding RNA field Proceedings - 2015 Ieee International Conference On Bioinformatics and Biomedicine, Bibm 2015. 621-624. DOI: 10.1109/BIBM.2015.7359755  0.36
2014 Welch BM, Rodriguez-Loya S, Eilbeck K, Kawamoto K. Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype. Amia ... Annual Symposium Proceedings / Amia Symposium. Amia Symposium. 2014: 1188-97. PMID 25954430  0.36
2014 Huang J, Dang J, Borchert GM, Eilbeck K, Zhang H, Xiong M, Jiang W, Wu H, Blake JA, Natale DA, Tan M. OMIT: dynamic, semi-automated ontology development for the microRNA domain. Plos One. 9: e100855. PMID 25025130 DOI: 10.1371/Journal.Pone.0100855  0.36
2014 Welch BM, Eilbeck K, Del Fiol G, Meyer LJ, Kawamoto K. Technical desiderata for the integration of genomic data with clinical decision support. Journal of Biomedical Informatics. 51: 3-7. PMID 24931434 DOI: 10.1016/J.Jbi.2014.05.014  0.36
2014 Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. American Journal of Human Genetics. 94: 599-610. PMID 24702956 DOI: 10.1016/J.Ajhg.2014.03.010  0.36
2014 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, ... ... Eilbeck K, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53  0.36
2013 O'Rawe JA, Fang H, Rynearson S, Robison R, Kiruluta ES, Higgins G, Eilbeck K, Reese MG, Lyon GJ. Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. Peerj. 1: e177. PMID 24109560 DOI: 10.7717/Peerj.177  0.36
2013 Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R. The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. The Journal of Molecular Diagnostics : Jmd. 15: 526-34. PMID 23665194 DOI: 10.1016/J.Jmoldx.2013.03.005  0.36
2013 Eilbeck K, Jacobs J, Staes CJ. Optimize querying of LOINC® with an ontology: Give me the chlamydia tests the epidemiologists want me to use! Proceedings of the Annual Hawaii International Conference On System Sciences. 2398-2407. DOI: 10.1109/HICSS.2013.433  0.36
2013 Eilbeck K, Jacobs J, McGarvey S, Vinion C, Staes C. Exploring the use of ontologies and automated reasoning to manage selection of reportable condition lab tests from LOINC Ceur Workshop Proceedings. 1060: 12-15.  0.36
2012 Bada M, Eilbeck K. Efforts toward a more consistent and interoperable sequence ontology Ceur Workshop Proceedings. 897.  0.36
2012 Moore B, Rynearson S, Cunningham F, Ritchie G, Eilbeck K. Using GVF for clinical annotation of personal genomes Ceur Workshop Proceedings. 916.  0.36
2011 Mungall CJ, Batchelor C, Eilbeck K. Evolution of the Sequence Ontology terms and relationships. Journal of Biomedical Informatics. 44: 87-93. PMID 20226267 DOI: 10.1016/J.Jbi.2010.03.002  0.36
2011 Hoehndorf R, Batchelor C, Bittner T, Dumontier M, Eilbeck K, Knight R, Mungall CJ, Richardson JS, Stombaugh J, Westhof E, Zirbel CL, Leontis NB. The RNA Ontology (RNAO): An ontology for integrating RNA sequence and structure data Applied Ontology. 6: 53-89. DOI: 10.1038/Npre.2009.3561.1  0.36
2010 Reese MG, Moore B, Batchelor C, Salas F, Cunningham F, Marth GT, Stein L, Flicek P, Yandell M, Eilbeck K. A standard variation file format for human genome sequences. Genome Biology. 11: R88. PMID 20796305 DOI: 10.1186/Gb-2010-11-8-R88  0.36
2010 Moore B, Fan G, Eilbeck K. SOBA: sequence ontology bioinformatics analysis. Nucleic Acids Research. 38: W161-4. PMID 20494974 DOI: 10.1093/Nar/Gkq426  0.36
2010 Karp DR, Marthandan N, Marsh SG, Ahn C, Arnett FC, Deluca DS, Diehl AD, Dunivin R, Eilbeck K, Feolo M, Guidry PA, Helmberg W, Lewis S, Mayes MD, Mungall C, et al. Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis. Human Molecular Genetics. 19: 707-19. PMID 19933168 DOI: 10.1093/Hmg/Ddp521  0.36
2010 Bada M, Eilbeck K. Toward a richer representation of sequence variation in the sequence ontology Ceur Workshop Proceedings. 645.  0.36
2009 Eilbeck K, Moore B, Holt C, Yandell M. Quantitative measures for the management and comparison of annotated genomes. Bmc Bioinformatics. 10: 67. PMID 19236712 DOI: 10.1186/1471-2105-10-67  0.36
2008 Reeves GA, Eilbeck K, Magrane M, O'Donovan C, Montecchi-Palazzi L, Harris MA, Orchard S, Jimenez RC, Prlic A, Hubbard TJ, Hermjakob H, Thornton JM. The Protein Feature Ontology: a tool for the unification of protein feature annotations. Bioinformatics (Oxford, England). 24: 2767-72. PMID 18936051 DOI: 10.1093/Bioinformatics/Btn528  0.36
2008 Harris MA, Deegan JI, Ireland A, Lomax J, Ashburner M, Tweedie S, Carbon S, Lewis S, Mungall C, Day-Richter J, Eilbeck K, Blake JA, Bult C, Diehl AD, Dolan M, et al. The Gene Ontology project in 2008 Nucleic Acids Research. 36. PMID 17984083 DOI: 10.1093/Nar/Gkm883  0.36
2007 Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W, Goldberg LJ, Eilbeck K, Ireland A, Mungall CJ, Leontis N, Rocca-Serra P, Ruttenberg A, Sansone SA, et al. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nature Biotechnology. 25: 1251-5. PMID 17989687 DOI: 10.1038/Nbt1346  0.36
2007 Day-Richter J, Harris MA, Haendel M, Clark JI, Ireland A, Lomax J, Eilbeck K, Lewis S, Mungall C, Diehl AD, Drabkin H, Christie KR, Berardini T, Fey P, Bastiani CA, et al. OBO-Edit - An ontology editor for biologists Bioinformatics. 23: 2198-2200. PMID 17545183 DOI: 10.1093/Bioinformatics/Btm112  0.36
2005 Eilbeck K, Lewis SE, Mungall CJ, Yandell M, Stein L, Durbin R, Ashburner M. The Sequence Ontology: a tool for the unification of genome annotations. Genome Biology. 6: R44. PMID 15892872 DOI: 10.1186/Gb-2005-6-5-R44  0.36
2004 Eilbeck K, Lewis SE. Sequence ontology annotation guide. Comparative and Functional Genomics. 5: 642-7. PMID 18629179 DOI: 10.1002/Cfg.446  0.36
2004 Harris MA, Clark J, Ireland A, Lomax J, Ashburner M, Foulger R, Eilbeck K, Lewis S, Marshall B, Mungall C, Richter J, Rubin GM, Blake JA, Bult C, Dolan M, et al. The Gene Ontology (GO) database and informatics resource. Nucleic Acids Research. 32: D258-61. PMID 14681407 DOI: 10.1093/nar/gkh036  0.36
2004 Harris MA, Clark J, Ireland A, Lomax J, Ashburner M, Foulger R, Eilbeck K, Lewis S, Marshall B, Mungall C, Richter J, Rubin GM, Blake JA, Bult C, Dolan M, et al. The Gene Oncology (GO) database and informatics resource Nucleic Acids Research. 32: D258-D261.  0.36
2001 Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, ... ... Eilbeck K, et al. The sequence of the human genome. Science (New York, N.Y.). 291: 1304-51. PMID 11181995 DOI: 10.1126/Science.1058040  0.36
2000 Paton NW, Khan SA, Hayes A, Moussouni F, Brass A, Eilbeck K, Goble CA, Hubbard SJ, Oliver SG. Conceptual modelling of genomic information. Bioinformatics (Oxford, England). 16: 548-57. PMID 10980152 DOI: 10.1093/Bioinformatics/16.6.548  0.36
1999 Eilbeck K, Brass A, Paton N, Hodgman C. INTERACT: an object oriented protein-protein interaction database. Proceedings / ... International Conference On Intelligent Systems For Molecular Biology ; Ismb. International Conference On Intelligent Systems For Molecular Biology. 87-94. PMID 10786290  0.36
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