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Karen Eilbeck
Karen Eilbeck
Professor, Biomedical Informatics, University of Utah
Bestätigte E-Mail-Adresse bei genetics.utah.edu - Startseite
Titel
Zitiert von
Zitiert von
Jahr
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
205572001
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
30922007
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
9662005
The gene ontology (GO) project in 2006
Gene Ontology Consortium
Nucleic acids research 34 (suppl_1), D322-D326, 2006
8462006
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
2732017
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
2392015
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
2102016
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
1772021
Conceptual modelling of genomic information
NW Paton, SA Khan, A Hayes, F Moussouni, A Brass, K Eilbeck, ...
Bioinformatics 16 (6), 548-557, 2000
1732000
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
1292020
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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