Karen Eilbeck
Karen Eilbeck
Professor, Biomedical Informatics, University of Utah
Verifierad e-postadress på genetics.utah.edu - Startsida
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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
182642001
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
25412007
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
7942005
The gene ontology (GO) project in 2006
Gene Ontology Consortium
Nucleic acids research 34 (suppl_1), D322-D326, 2006
6822006
The gene ontology project in 2008
Gene Ontology Consortium
Nucleic acids research 36 (suppl_1), D440-D444, 2008
641*2008
The Gene Ontology in 2010: extensions and refinements
Gene Ontology Consortium
Nucleic acids research 38 (suppl_1), D331-D335, 2010
4382010
Settling the score: variant prioritization and Mendelian disease
K Eilbeck, A Quinlan, M Yandell
Nature Reviews Genetics 18 (10), 599-612, 2017
1712017
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
1512014
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
1482015
Conceptual modelling of genomic information
NW Paton, SA Khan, A Hayes, F Moussouni, A Brass, K Eilbeck, ...
Bioinformatics 16 (6), 548-557, 2000
1482000
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
1282016
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
1222016
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
1122009
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
992014
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
952010
Evolution of the Sequence Ontology terms and relationships
CJ Mungall, C Batchelor, K Eilbeck
Journal of biomedical informatics 44 (1), 87-93, 2011
902011
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
862007
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
612006
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
572013
GIMS-a data warehouse for storage and analysis of genome sequence and functional data
M Cornell, NW Paton, S Wu, CA Goble, CJ Miller, P Kirby, K Eilbeck, ...
Proceedings 2nd Annual IEEE International Symposium on Bioinformatics and …, 2001
552001
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Artiklar 1–20