A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Smedley, Damian, Schubach, Max, Jacobsen, Julius O.B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, Robinson, Peter N.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
Kibbe, Warren A, Arze, Cesar, Felix, Victor, Mitraka, Elvira, Bolton, Evan, Fu, Gang, Mungall, Christopher J, Binder, Janos X, Malone, James, Vasant, Drashtti, Parkinson, Helen, Schriml, Lynn M
Published in Nucleic acids research (28.01.2015)
Published in Nucleic acids research (28.01.2015)
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Journal Article
ROBOT: A Tool for Automating Ontology Workflows
Jackson, Rebecca C, Balhoff, James P, Douglass, Eric, Harris, Nomi L, Mungall, Christopher J, Overton, James A
Published in BMC bioinformatics (29.07.2019)
Published in BMC bioinformatics (29.07.2019)
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Journal Article
AmiGO: online access to ontology and annotation data
Carbon, Seth, Ireland, Amelia, Mungall, Christopher J., Shu, ShengQiang, Marshall, Brad, Lewis, Suzanna
Published in Bioinformatics (15.01.2009)
Published in Bioinformatics (15.01.2009)
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Journal Article
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Mungall, Christopher J, McMurry, Julie A, Köhler, Sebastian, Balhoff, James P, Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, J P, Jacobsen, Julius O B, Keith, Dan, Laraway, Bryan, Lewis, Suzanna E, NguyenXuan, Jeremy, Shefchek, Kent, Vasilevsky, Nicole, Yuan, Zhou, Washington, Nicole, Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N, Haendel, Melissa A
Published in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
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Journal Article
Improved exome prioritization of disease genes through cross-species phenotype comparison
Robinson, Peter N, Köhler, Sebastian, Oellrich, Anika, Wang, Kai, Mungall, Christopher J, Lewis, Suzanna E, Washington, Nicole, Bauer, Sebastian, Seelow, Dominik, Krawitz, Peter, Gilissen, Christian, Haendel, Melissa, Smedley, Damian
Published in Genome research (01.02.2014)
Published in Genome research (01.02.2014)
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Journal Article
JBrowse: a next-generation genome browser
Skinner, Mitchell E, Uzilov, Andrew V, Stein, Lincoln D, Mungall, Christopher J, Holmes, Ian H
Published in Genome Research (01.09.2009)
Published in Genome Research (01.09.2009)
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Journal Article
High-performance web services for querying gene and variant annotation
Xin, Jiwen, Mark, Adam, Afrasiabi, Cyrus, Tsueng, Ginger, Juchler, Moritz, Gopal, Nikhil, Stupp, Gregory S, Putman, Timothy E, Ainscough, Benjamin J, Griffith, Obi L, Torkamani, Ali, Whetzel, Patricia L, Mungall, Christopher J, Mooney, Sean D, Su, Andrew I, Wu, Chunlei
Published in Genome Biology (06.05.2016)
Published in Genome Biology (06.05.2016)
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Journal Article
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration
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 (01.11.2007)
Published in Nature biotechnology (01.11.2007)
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Journal Article
The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability
Diehl, Alexander D, Meehan, Terrence F, Bradford, Yvonne M, Brush, Matthew H, Dahdul, Wasila M, Dougall, David S, He, Yongqun, Osumi-Sutherland, David, Ruttenberg, Alan, Sarntivijai, Sirarat, Van Slyke, Ceri E, Vasilevsky, Nicole A, Haendel, Melissa A, Blake, Judith A, Mungall, Christopher J
Published in Journal of biomedical semantics (04.07.2016)
Published in Journal of biomedical semantics (04.07.2016)
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Journal Article
The Plant Ontology Facilitates Comparisons of Plant Development Stages Across Species
Walls, Ramona L, Cooper, Laurel, Elser, Justin, Gandolfo, Maria Alejandra, Mungall, Christopher J, Smith, Barry, Stevenson, Dennis W, Jaiswal, Pankaj
Published in Frontiers in plant science (04.06.2019)
Published in Frontiers in plant science (04.06.2019)
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Journal Article
Phenopacket-tools: Building and validating GA4GH Phenopackets
Danis, Daniel, Jacobsen, Julius O B, Wagner, Alex H, Groza, Tudor, Beckwith, Martha A, Rekerle, Lauren, Carmody, Leigh C, Reese, Justin, Hegde, Harshad, Ladewig, Markus S, Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L, Rambla, Jordi, Baudis, Michael, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Published in PloS one (17.05.2023)
Published in PloS one (17.05.2023)
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Journal Article
An evaluation of GPT models for phenotype concept recognition
Groza, Tudor, Caufield, Harry, Gration, Dylan, Baynam, Gareth, Haendel, Melissa A, Robinson, Peter N, Mungall, Christopher J, Reese, Justin T
Published in BMC medical informatics and decision making (31.01.2024)
Published in BMC medical informatics and decision making (31.01.2024)
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Journal Article
Evolution of the Sequence Ontology terms and relationships
Mungall, Christopher J., Batchelor, Colin, Eilbeck, Karen
Published in Journal of biomedical informatics (01.02.2011)
Published in Journal of biomedical informatics (01.02.2011)
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Journal Article
Logical development of the cell ontology
Meehan, Terrence F, Masci, Anna Maria, Abdulla, Amina, Cowell, Lindsay G, Blake, Judith A, Mungall, Christopher J, Diehl, Alexander D
Published in BMC bioinformatics (05.01.2011)
Published in BMC bioinformatics (05.01.2011)
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Journal Article
The Ontology of Biological Attributes (OBA)—computational traits for the life sciences
Stefancsik, Ray, Balhoff, James P., Balk, Meghan A., Ball, Robyn L., Bello, Susan M., Caron, Anita R., Chesler, Elissa J., de Souza, Vinicius, Gehrke, Sarah, Haendel, Melissa, Harris, Laura W., Harris, Nomi L., Ibrahim, Arwa, Koehler, Sebastian, Matentzoglu, Nicolas, McMurry, Julie A., Mungall, Christopher J., Munoz-Torres, Monica C., Putman, Tim, Robinson, Peter, Smedley, Damian, Sollis, Elliot, Thessen, Anne E., Vasilevsky, Nicole, Walton, David O., Osumi-Sutherland, David
Published in Mammalian genome (01.09.2023)
Published in Mammalian genome (01.09.2023)
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Journal Article
KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response
Reese, Justin T., Unni, Deepak, Callahan, Tiffany J., Cappelletti, Luca, Ravanmehr, Vida, Carbon, Seth, Shefchek, Kent A., Good, Benjamin M., Balhoff, James P., Fontana, Tommaso, Blau, Hannah, Matentzoglu, Nicolas, Harris, Nomi L., Munoz-Torres, Monica C., Haendel, Melissa A., Robinson, Peter N., Joachimiak, Marcin P., Mungall, Christopher J.
Published in Patterns (08.01.2021)
Published in Patterns (08.01.2021)
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Journal Article
Web Resource
Ontologies as integrative tools for plant science
Walls, Ramona L., Athreya, Balaji, Cooper, Laurel, Elser, Justin, Gandolfo, Maria A., Jaiswal, Pankaj, Mungall, Christopher J., Preece, Justin, Rensing, Stefan, Smith, Barry, Stevenson, Dennis W.
Published in American journal of botany (01.08.2012)
Published in American journal of botany (01.08.2012)
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Journal Article