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Karen Eilbeck
Karen Eilbeck
Professor, Biomedical Informatics, University of Utah
Verified email at genetics.utah.edu - Homepage
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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
205692001
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
30952007
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, 1-12, 2005
9702005
The gene ontology (GO) project in 2006
Gene Ontology Consortium
Nucleic acids research 34 (suppl_1), D322-D326, 2006
8472006
The gene ontology project in 2008
Gene Ontology Consortium
Nucleic acids research 36 (suppl_1), D440-D444, 2008
6452008
The Gene Ontology in 2010: extensions and refinements
Gene Ontology Consortium
Nucleic acids research 38 (suppl_1), D331-D335, 2010
4782010
Settling the score: variant prioritization and Mendelian disease
K Eilbeck, A Quinlan, M Yandell
Nature Reviews Genetics 18 (10), 599-612, 2017
2742017
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
2382015
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
2142014
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
2122016
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, 1-18, 2016
1902016
GA4GH: International policies and standards for data sharing across genomic research and healthcare
HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ...
Cell genomics 1 (2), 2021
1782021
Conceptual modelling of genomic information
NW Paton, SA Khan, A Hayes, F Moussouni, A Brass, K Eilbeck, ...
Bioinformatics 16 (6), 548-557, 2000
1742000
Quantitative measures for the management and comparison of annotated genomes
K Eilbeck, B Moore, C Holt, M Yandell
BMC bioinformatics 10, 1-15, 2009
1642009
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
1632007
Redefining fundamental concepts of transcription initiation in bacteria
C Mejía-Almonte, SJW Busby, JT Wade, J van Helden, AP Arkin, ...
Nature Reviews Genetics 21 (11), 699-714, 2020
1302020
The gene ontology project in 2008
MA Harris, JI Deegan, A Ireland, J Lomax, M Ashburner, S Tweedie, ...
Nucleic Acids Research 36 (SUPPL. 1), D440-D444, 2008
1282008
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, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1262014
ClinVar miner: demonstrating utility of a web‐based tool for viewing and filtering ClinVar data
A Henrie, SE Hemphill, N Ruiz‐Schultz, B Cushman, MT DiStefano, ...
Human mutation 39 (8), 1051-1060, 2018
1072018
A standard variation file format for human genome sequences
MG Reese, B Moore, C Batchelor, F Salas, F Cunningham, GT Marth, ...
Genome biology 11, 1-9, 2010
1072010
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