未登录 Model organism data evolving in support of translational medicine Howe, Douglas G.; Blake, Judith A.; Bradford, Yvonne M.; Bult, Carol J.; Calvi, Brian R.; Enge, Stacia R.; Kadin, James A.; Kaufman, Thomas C.; Kishores, Ranjana; Laulederkind, Stanleyj F.; Lewis, Suzanna E.; Moxon, Sierra A. T.; Richardson, Joel E.; Smith, Cynthia 分享 收藏
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The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species Mungall, Christopher J.; McMurry, Julie A.; Koehler, 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. 分享 收藏
Navigating the Phenotype Frontier: The Monarch Initiative McMurry, Julie A.; Koehler, Sebastian; Washington, Nicole L.; Balhoff, James P.; Borromeo, Charles; Brush, Matthew; Carbon, Seth; Conlin, Tom; Dunn, Nathan; Engelstad, Mark; Foster, Erin; Gourdine, Jean-Philippe; Jacobsen, Julius O. B.; Keith, Daniel; Laraway, Bryan; Xuan, Jeremy Nguyen; Shefchek, Kent; Vasilevsky, Nicole A.; Yuan, Zhou; Lewis, Suzanna E.; Hochheiser, Harry; Groza, Tudor; Smedley, Damian; Robinson, Peter N.; Mungall, Christopher J.; Haendel, Melissa A. 分享 收藏
Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery Mungall, Christopher J.; Washington, Nicole L.; Nguyen-Xuan, Jeremy; Condit, Christopher; Smedley, Damian; Koehler, Sebastian; Groza, Tudor; Shefchek, Kent; Hochheiser, Harry; Robinson, Peter N.; Lewis, Suzanna E.; Haendel, Melissa A. 分享 收藏
Quest for Orthologs Entails Quest for Tree of Life: In Search of the Gene Stream Boeckmann, Brigitte; Marcet-Houben, Marina; Rees, Jonathan A.; Forslund, Kristoffer; Huerta-Cepas, Jaime; Muffato, Matthieu; Yilmaz, Pelin; Xenarios, Ioannis; Bork, Peer; Lewis, Suzanna E.; Gabaldon, Toni 分享 收藏
The Confidence Information Ontology: a step towards a standard for asserting confidence in annotations Bastian, Frederic B.; Chibucos, Marcus C.; Gaudet, Pascale; Giglio, Michelle; Holliday, Gemma L.; Huang, Hong; Lewis, Suzanna E.; Niknejad, Anne; Orchard, Sandra; Poux, Sylvain; Skunca, Nives; Robinson-Rechavi, Marc 分享 收藏
Deletions of chromosomal regulatory boundaries are associated with congenital disease Ibn-Salem, Jonas; Koehler, Sebastian; Love, Michael I.; Chung, Ho-Ryun; Huang, Ni; Hurles, Matthew E.; Haendel, Melissa; Washington, Nicole L.; Smedley, Damian; Mungall, Christopher J.; Lewis, Suzanna E.; Ott, Claus-Eric; Bauer, Sebastian; Schofield, Paul N.; Mundlos, Stefan; Spielmann, Malte; Robinson, Peter N. 分享 收藏
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome Zemojtel, Tomasz; koehler, Sebastian; Mackenroth, Luisa; Jaeger, Marten; Hecht, Jochen; Krawitz, Peter; Graul-Neumann, Luitgard; Doelken, Sandra; Ehmke, Nadja; Spielmann, Malte; Oien, Nancy Christine; Schweiger, Michal R.; Krueger, Ulrike; Frommer, Goetz; Fischer, Bjoern; Kornak, Uwe; Floettmann, Ricarda; Ardeshirdavani, Amin; Moreau, Yves; Lewis, Suzanna E.; Haendel, Melissa; Smedley, Damian; Horn, Denise; Mundlos, Stefan; Robinson, Peter N. 分享 收藏
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Web Apollo: a web-based genomic annotation editing platform Lee, Eduardo; Helt, Gregg A.; Reese, Justin T.; Munoz-Torres, Monica C.; Childers, Chris P.; Buels, Robert M.; Stein, Lincoln; Holmes, Ian H.; Elsik, Christine G.; Lewis, Suzanna E. 分享 收藏
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish Doelken, Sandra C.; Koehler, Sebastian; Mungall, Christopher J.; Gkoutos, Georgios V.; Ruef, Barbara J.; Smith, Cynthia; Smedley, Damian; Bauer, Sebastian; Klopocki, Eva; Schofield, Paul N.; Westerfield, Monte; Robinson, Peter N.; Lewis, Suzanna E. 分享 收藏
MouseFinder: Candidate Disease Genes from Mouse Phenotype Data MouseFinder: 来自小鼠表型数据的候选疾病基因 Chen, Chao-Kung; Mungall, Christopher J.; Gkoutos, Georgios V.; Doelken, Sandra C.; Koehler, Sebastian; Ruef, Barbara J.; Smith, Cynthia; Westerfield, Monte; Robinson, Peter N.; Lewis, Suzanna E.; Schofield, Paul N.; Smedley, Damian 分享 收藏
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modMine: flexible access to modENCODE data Contrino, Sergio; Smith, Richard N.; Butano, Daniela; Carr, Adrian; Hu, Fengyuan; Lyne, Rachel; Rutherford, Kim; Kalderimis, Alex; Sullivan, Julie; Carbon, Seth; Kephart, Ellen T.; Lloyd, Paul; Stinson, E. O.; Washington, Nicole L.; Perry, Marc D.; Ruzanov, Peter; Zha, Zheng; Lewis, Suzanna E.; Stein, Lincoln D.; Micklem, Gos 分享 收藏
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The modENCODE Data Coordination Center: lessons in harvesting comprehensive experimental details Washington, Nicole L.; Stinson, E. O.; Perry, Marc D.; Ruzanov, Peter; Contrino, Sergio; Smith, Richard; Zha, Zheng; Lyne, Rachel; Carr, Adrian; Lloyd, Paul; Kephart, Ellen; McKay, Sheldon J.; Micklem, Gos; Stein, Lincoln D.; Lewis, Suzanna E. 分享 收藏
Towards BioDBcore: a community-defined information specification for biological databases Gaudet, Pascale; Bairoch, Amos; Field, Dawn; Sansone, Susanna-Assunta; Taylor, Chris; Attwood, Teresa K.; Bateman, Alex; Blake, Judith A.; Bult, Carol J.; Cherry, J. Michael; Chisholm, Rex L.; Cochrane, Guy; Cook, Charles E.; Eppig, Janan T.; Galperin, Michael Y.; Gentleman, Robert; Goble, Carole A.; Gojobori, Takashi; Hancock, John M.; Howe, Douglas G.; Imanishi, Tadashi; Kelso, Janet; Landsman, David; Lewis, Suzanna E.; Karsch-Mizrachi, Ilene; Orchard, Sandra; Ouellette, B. F. Francis; Ranganathan, Shoba; Richardson, Lorna; Rocca-Serra, Philippe; Schofield, Paul N.; Smedley, Damian; Southan, Christopher; Tan, Tin Wee; Tatusova, Tatiana; Whetzel, Patricia L.; White, Owen; Yamasaki, Chisato 分享 收藏
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Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis Karp, David R.; Marthandan, Nishanth; Marsh, Steven G. E.; Ahn, Chul; Arnett, Frank C.; DeLuca, David S.; Diehl, Alexander D.; Dunivin, Raymond; Eilbeck, Karen; Feolo, Michael; Guidry, Paula A.; Helmberg, Wolfgang; Lewis, Suzanna; Mayes, Maureen D.; Mungall, Chris; Natale, Darren A.; Peters, Bjoern; Petersdorf, Effie; Reveille, John D.; Smith, Barry; Thomson, Glenys; Waller, Matthew J.; Scheuermann, Richard H. 分享 收藏
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