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Evaluation of need for ontologies to manage domain content for the Reportable Conditions Knowledge Management System
by
Eilbeck, Karen L
,
Lipstein, Julie
,
McGarvey, Sunanda
,
Staes, Catherine J
Published in
AMIA ... Annual Symposium proceedings
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LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar
by
Watkins, Michael T.
,
Kohlmann, Wendy K.
,
Berry, Therese S.
,
Sama, Neetha R.
,
Koptiuch, Cathryn
,
Rynearson, Shawn G.
,
Eilbeck, Karen L.
Published in
AMIA ... Annual Symposium proceedings
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LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar
by
Watkins, Michael T
,
Kohlmann, Wendy K
,
Berry, Therese S
,
Sama, Neetha R
,
Koptiuch, Cathryn
,
Rynearson, Shawn G
,
Eilbeck, Karen L
Published in
AMIA ... Annual Symposium proceedings
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Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
by
Flygare, Steven
,
Simmon, Keith
,
Miller, Chase
,
Qiao, Yi
,
Kennedy, Brett
,
Di Sera, Tonya
,
Graf, Erin H
,
Tardif, Keith D
,
Kapusta, Aurélie
,
Rynearson, Shawn
,
Stockmann, Chris
,
Queen, Krista
,
Tong, Suxiang
,
Voelkerding, Karl V
,
Blaschke, Anne
,
Byington, Carrie L
,
Jain, Seema
,
Pavia, Andrew
,
Ampofo, Krow
,
Eilbeck, Karen
,
Marth, Gabor
,
Yandell, Mark
,
Schlaberg, Robert
Published in
Genome Biology
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The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration
by
Smith, Barry
,
Ashburner, Michael
,
Rosse, Cornelius
,
Bard, Jonathan
,
Bug, William
,
Ceusters, Werner
,
Goldberg, Louis J
,
Eilbeck, Karen
,
Ireland, Amelia
,
Mungall, Christopher J
,
Leontis, Neocles
,
Rocca-Serra, Philippe
,
Ruttenberg, Alan
,
Sansone, Susanna-Assunta
,
Scheuermann, Richard H
,
Shah, Nigam
,
Whetzel, Patricia L
,
Lewis, Suzanna
Published in
Nature biotechnology
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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
by
Singleton, Marc V.
,
Guthery, Stephen L.
,
Voelkerding, Karl V.
,
Chen, Karin
,
Kennedy, Brett
,
Margraf, Rebecca L.
,
Durtschi, Jacob
,
Eilbeck, Karen
,
Reese, Martin G.
,
Jorde, Lynn B.
,
Huff, Chad D.
,
Yandell, Mark
Published in
American journal of human genetics
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The Sequence Ontology: a tool for the unification of genome annotations
by
Eilbeck, Karen
,
Lewis, Suzanna E
,
Mungall, Christopher J
,
Yandell, Mark
,
Stein, Lincoln
,
Durbin, Richard
,
Ashburner, Michael
Published in
Genome biology
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GA4GH: International policies and standards for data sharing across genomic research and healthcare
by
Rehm, Heidi L.
,
Smith, Lindsay
,
Adams, Jeremy B.
,
Alterovitz, Gil
,
Babb, Lawrence J.
,
Beauvais, Michael J.S.
,
Beck, Tim
,
Beckmann, Jacques S.
,
Bernick, David
,
Bonfield, James K.
,
Bourque, Guillaume
,
Bowers, Sarion R.
,
Brush, Matthew H.
,
Bujold, David
,
Buske, Orion J.
,
Cabili, Moran N.
,
Carroll, Robert J.
,
Casas-Silva, Esmeralda
,
Cherry, J. Michael
,
Chung, Justina
,
Clissold, Hayley L.
,
Cook-Deegan, Robert M.
,
Courtot, Mélanie
,
Davies, Robert M.
,
Dolman, Lena I.
,
Dursi, L. Jonathan
,
Eddy, James A.
,
Ellrott, Kyle P.
,
Fakhro, Khalid A.
,
Flicek, Paul
,
Fore, Ian M.
,
Freeberg, Mallory A.
,
Freimuth, Robert R.
,
Fuerth, Jonathan
,
Ghanaim, Elena M.
,
Grossman, Robert L.
,
Groza, Tudor
,
Guigó, Roderic
,
Gupta, Dipayan
,
Hamosh, Ada
,
Hartley, Dean Mitchell
,
Haussler, David
,
Hobb, Ashley E.
,
Hunt, Sarah E.
,
Jamuar, Saumya S.
,
Joly, Yann
,
Jones, Steven J.M.
,
Kanitz, Alexander
,
Kato, Kazuto
,
Kelleher, Jerome
,
Kerry, Giselle
,
Khor, Seik-Soon
,
Knoppers, Bartha M.
,
Kosaki, Kenjiro
,
Lawson, Jonathan
,
Li, Stephanie
,
Lin, Michael F.
,
Linden, Mikael
,
Mann, Alice L.
,
Marshall, John
,
Middleton, Anna
,
Mulder, Nicola
,
Munoz-Torres, Monica C.
,
Nag, Rishi
,
Niu, Jeffrey
,
Nyrönen, Tommi H.
,
Oesterle, Sabine
,
Paglione, Laura A.D.
,
Palumbo, Emilio
,
Parkinson, Helen E.
,
Philippakis, Anthony A.
,
Rambla, Jordi
,
Rendon, Augusto
,
Robinson, Peter N.
,
Rodarmer, Kurt W.
,
Rueda, Manuel
,
Rushton, Gregory A.
,
Schuilenburg, Helen
,
Scollen, Serena
,
Smith, Albert V.
,
Sofia, Heidi J.
,
Spalding, Dylan
,
Spurdle, Amanda B.
,
Tan, Patrick
,
Thomson, Alastair A.
,
Tickle, Timothy L.
,
Tokunaga, Katsushi
,
Törnroos, Juha
,
Upchurch, Sean
,
Guimera, Roman Valls
,
Varma, Susheel
,
Viner, Coby
,
Voisin, Craig
,
Wagner, Alex H.
,
Walsh, Brian P.
,
Williams, Marc S.
,
Winkler, Eva C.
,
Yamasaki, Chisato
,
Yung, Christina K.
,
North, Kathryn
Published in
Cell genomics
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The genomic CDS sandbox: An assessment among domain experts
by
Aziz, Ayesha
,
Kawamoto, Kensaku
,
Eilbeck, Karen
,
Williams, Marc S.
,
Freimuth, Robert R.
,
Hoffman, Mark A.
,
Rasmussen, Luke V.
,
Overby, Casey L.
,
Shirts, Brian H.
,
Hoffman, James M.
,
Welch, Brandon M.
Published in
Journal of biomedical informatics
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Shared Genetic Variants Among Streptococcus pneumoniae Isolates Causing Complicated Pneumonia and Empyema in Children
by
Osborne, Edward
,
Blaschke, Anne J.
,
Ampofo, Krow
,
Crandall, Hillary
,
Killpack, Jarrett
,
Stockmann, Chris R.
,
Farrell, Andrew P.
,
Fischer, Kael F
,
Pavia, Andrew
,
Eilbeck, Karen
,
Schlaberg, Robert
,
Yandell, Mark
,
Byington, Carrie L.
Published in
Open forum infectious diseases
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100Shared Genetic Variants Among Streptococcus pneumoniae Isolates Causing Complicated Pneumonia and Empyema in Children
by
Osborne, Edward
,
Blaschke, Anne J.
,
Ampofo, Krow
,
Crandall, Hillary
,
Killpack, Jarrett
,
Stockmann, Chris R.
,
Farrell, Andrew P.
,
Fischer, Kael F
,
Pavia, Andrew
,
Eilbeck, Karen
,
Schlaberg, Robert
,
Yandell, Mark
,
Byington, Carrie L.
Published in
Open forum infectious diseases
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