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Karen Eilbeck - Publications

Affiliations: 
Human genetics, Eccles Institute of Human Genetics University of Utah and School of Medicine, USA 
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37 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
2021 Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, ... ... Eilbeck K, et al. GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics. 1. PMID 35072136 DOI: 10.1016/j.xgen.2021.100029  0.372
2020 Mejía-Almonte C, Busby SJW, Wade JT, van Helden J, Arkin AP, Stormo GD, Eilbeck K, Palsson BO, Galagan JE, Collado-Vides J. Redefining fundamental concepts of transcription initiation in bacteria. Nature Reviews. Genetics. PMID 32665585 DOI: 10.1038/S41576-020-0254-8  0.36
2019 Watkins M, Rynearson S, Henrie A, Eilbeck K. Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation. Amia ... Annual Symposium Proceedings. Amia Symposium. 2019: 1226-1235. PMID 32308920  0.326
2019 Desvignes T, Loher P, Eilbeck K, Ma J, Urgese G, Fromm B, Sydes J, Aparicio-Puerta E, Barrera V, Espín R, Thibord F, Ros XB, Londin E, Telonis AG, Ficarra E, et al. Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API. Bioinformatics (Oxford, England). PMID 31504201 DOI: 10.1093/Bioinformatics/Btz675  0.332
2019 Gouripeddi R, Miller A, Eilbeck K, Sward K, Facelli JC. 3399 Systematically Integrating Microbiomes and Exposomes for Translational Research Journal of Clinical and Translational Science. 3: 29-30. DOI: 10.1017/cts.2019.71  0.335
2018 Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, et al. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation. 39: 1569-1580. PMID 30311390 DOI: 10.1002/Humu.23649  0.343
2018 Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K. ClinVar miner: Demonstrating utility of a web-based tool for viewing and filtering clinvar data. Human Mutation. PMID 29790234 DOI: 10.1002/Humu.23555  0.349
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  0.46
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  0.435
2017 Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, Cordes S, Eilbeck K, Hyland F, Kalman L, Landrum M, Lockhart ER, Maglott D, Marth G, Pfeifer JD, et al. Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings. The Journal of Molecular Diagnostics : Jmd. PMID 28315672 DOI: 10.1016/J.Jmoldx.2016.12.001  0.466
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  0.384
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  0.397
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  0.374
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  0.352
2015 Duncan J, Eilbeck K, Narus SP, Clyde S, Thornton S, Staes C. Building an Ontology for Identity Resolution in Healthcare and Public Health. Online Journal of Public Health Informatics. 7: e219. PMID 26392849 DOI: 10.5210/Ojphi.V7I2.6010  0.302
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  0.481
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  0.457
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  0.405
2014 Welch BM, Loya SR, Eilbeck K, Kawamoto K. A proposed clinical decision support architecture capable of supporting whole genome sequence information. Journal of Personalized Medicine. 4: 176-99. PMID 25411644 DOI: 10.3390/Jpm4020176  0.38
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  0.392
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  0.368
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  0.462
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  0.397
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  0.341
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  0.447
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  0.307
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  0.464
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  0.474
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  0.416
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  0.367
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  0.377
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  0.335
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  0.46
2004 Eilbeck K, Lewis SE. Sequence ontology annotation guide. Comparative and Functional Genomics. 5: 642-7. PMID 18629179 DOI: 10.1002/Cfg.446  0.41
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  0.337
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  0.452
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  0.467
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