Knowledge

The Monarch Initiative

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Cipriani, Valentina; Cuzick, Alayne; Rocca, Maria D; Dunn, Nathan; Essaid, Shahim; Fey, Petra; Grove, Chris; Gourdine, Jean-Phillipe; Hamosh, Ada; Harris, Midori; Helbig, Ingo; Hoatlin, Maureen; Joachimiak, Marcin; Jupp, Simon; Lett, Kenneth B; Lewis, Suzanna E; McNamara, Craig; Pendlington, Zoë M; Pilgrim, Clare; Putman, Tim; Ravanmehr, Vida; Reese, Justin; Riggs, Erin; Robb, Sofia; Roncaglia, Paola; Seager, James; Segerdell, Erik; Similuk, Morgan; Storm, Andrea L; Thaxon, Courtney; Thessen, Anne; Jacobsen, Julius O B; McMurry, Julie A; Groza, Tudor; Köhler, Sebastian; Smedley, Damian; Robinson, Peter N; Mungall, Christopher J; Haendel, Melissa A; Munoz-Torres, Monica C; Osumi-Sutherland, David (8 November 2019).
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Shefchek, Kent A; Harris, Nomi L; Gargano, Michael; Matentzoglu, Nicolas; Unni, Deepak; Brush, Matthew; Keith, Daniel; Conlin, Tom; Vasilevsky, Nicole; Zhang, Xingmin Aaron; Balhoff, James P; Babb, Larry; Bello, Susan M; Blau, Hannah; Bradford, Yvonne; Carbon, Seth; Carmody, Leigh; Chan, Lauren E;
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knowledge from various existing biomedical data resources into a centralized and structured database. While this integration process has been traditionally done manually by basic researchers and clinicians on a case-by-case basis, The Monarch Initiative provides an aggregated and structured
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Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P. (February 2020).
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is product of the Monarch Initiative and provides harmonized disease content for diseases and disorders, both rare and common. The rare disease subset has been published with >10.5 rare diseases, and is maintained by the community.
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Mungall, Christopher J.; McMurry, Julie A.; Köhler, Sebastian; Balhoff, James P.; Borromeo, Charles; Brush, Matthew; Carbon, Seth; Conlin, Tom; Dunn, Nathan (2017-01-04).
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collection of data and tools that make biomedical knowledge exploration more efficient and effective.
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is a large scale bioinformatics web resource focused on leveraging existing
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Protein ANalysis THrough Evolutionary Relationships Classification System
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Reactome - a curated knowledgebase of biological pathways
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Ensembl database of automatically annotated genomic data
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Index

references
inline citations
improve
introducing
Learn how and when to remove this message
genotype
phenotype
variant
disease
species
Organisms
Metazoa
https://monarchinitiative.org
biomedical
genotypes
phenotypes
genetic diseases
genotype
phenotype
genetic variant
disease
Mondo ontology
"The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species"
doi
10.1093/nar/gkw1128
ISSN
1362-4962
PMC
5210586
PMID

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