Karen Eilbeck
Karen Eilbeck
Professor, Biomedical Informatics, University of Utah
Verified email at genetics.utah.edu - Homepage
Title
Cited by
Cited by
Year
The sequence of the human genome
JC Venter, MD Adams, EW Myers, PW Li, RJ Mural, GG Sutton, HO Smith, ...
science 291 (5507), 1304-1351, 2001
175702001
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration
B Smith, M Ashburner, C Rosse, J Bard, W Bug, W Ceusters, LJ Goldberg, ...
Nature biotechnology 25 (11), 1251-1255, 2007
24202007
The Sequence Ontology: a tool for the unification of genome annotations
K Eilbeck, SE Lewis, CJ Mungall, M Yandell, L Stein, R Durbin, ...
Genome biology 6 (5), 1-12, 2005
7552005
The gene ontology (GO) project in 2006
Gene Ontology Consortium
Nucleic acids research 34 (suppl_1), D322-D326, 2006
6462006
The gene ontology project in 2008
Gene Ontology Consortium
Nucleic acids research 36 (suppl_1), D440-D444, 2008
603*2008
The Gene Ontology in 2010: extensions and refinements
Gene Ontology Consortium
Nucleic acids research 38 (suppl_1), D331-D335, 2010
4232010
Conceptual modelling of genomic information
NW Paton, SA Khan, A Hayes, F Moussouni, A Brass, K Eilbeck, ...
Bioinformatics 16 (6), 548-557, 2000
1412000
Leontis N, Rocca-Serra P, Ruttenberg A, Sansone SA, Scheuermann RH, Shah N, Whetzel PL, Lewis S: The OBO foundry: coordinated evolution of ontologies to support biomedical data …
B Smith, M Ashburner, C Rosse, J Bard, W Bug, W Ceusters, LJ Goldberg, ...
Nature Biotechnology 25 (11), 1251-1255, 2007
1382007
Settling the score: variant prioritization and Mendelian disease
K Eilbeck, A Quinlan, M Yandell
Nature Reviews Genetics 18 (10), 599-612, 2017
1362017
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families
MV Singleton, SL Guthery, KV Voelkerding, K Chen, B Kennedy, ...
The American Journal of Human Genetics 94 (4), 599-610, 2014
1352014
miRNA nomenclature: a view incorporating genetic origins, biosynthetic pathways, and sequence variants
T Desvignes, P Batzel, E Berezikov, K Eilbeck, JT Eppig, MS McAndrews, ...
Trends in Genetics 31 (11), 613-626, 2015
1222015
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
S Flygare, K Simmon, C Miller, Y Qiao, B Kennedy, T Di Sera, EH Graf, ...
Genome biology 17 (1), 1-18, 2016
1122016
Unbiased detection of respiratory viruses by use of RNA sequencing-based metagenomics: a systematic comparison to a commercial PCR panel
EH Graf, KE Simmon, KD Tardif, W Hymas, S Flygare, K Eilbeck, ...
Journal of clinical microbiology 54 (4), 1000-1007, 2016
1032016
Quantitative measures for the management and comparison of annotated genomes
K Eilbeck, B Moore, C Holt, M Yandell
BMC bioinformatics 10 (1), 1-15, 2009
1012009
A standard variation file format for human genome sequences
MG Reese, B Moore, C Batchelor, F Salas, F Cunningham, GT Marth, ...
Genome biology 11 (8), 1-9, 2010
942010
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ...
Genome biology 15 (3), 1-18, 2014
932014
Evolution of the Sequence Ontology terms and relationships
CJ Mungall, C Batchelor, K Eilbeck
Journal of biomedical informatics 44 (1), 87-93, 2011
882011
Amelia Ireland, Christopher J
B Smith, M Ashburner, C Rosse, J Bard, W Bug, W Ceusters, LJ Goldberg, ...
Mungall, Neocles Leontis, Philippe Rocca-Serra, Alan Ruttenberg, Susanna …, 2007
822007
The gene ontology (GO) project in 2006
MA Harris, JI Clark, A Ireland, J Lomax, M Ashburner, R Collins, K Eilbeck, ...
Nucleic Acids Research 34, D322-D326, 2006
562006
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders
S Dames, LS Chou, Y Xiao, T Wayman, J Stocks, M Singleton, K Eilbeck, ...
The Journal of Molecular Diagnostics 15 (4), 526-534, 2013
552013
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