The Monarch Initiative

The Monarch Initiative[1] is a large scale bioinformatics web resource focused on leveraging existing biomedical knowledge to connect genotypes with phenotypes in an effort to aid research that combats genetic diseases. Monarch does this by integrating multi-species genotype, phenotype, genetic variant and disease 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 collection of data and tools that make biomedical knowledge exploration more efficient and effective.

The Monarch Initiative
Content
DescriptionBioinformatics database of genetic disease data
Data types
captured
genotype, phenotype, variant, disease, species
OrganismsMetazoa
Contact
Primary citationMungall et al. 2017
Release dateJuly 12, 2015
Access
Websitehttps://monarchinitiative.org

Mondo ontology

Mondo ontology is product of the Monarch Initiative. It provides ontology for diseases and disorders (rare and common).[2]

gollark: Or, if you are cool™, make pointers 128 bits.
gollark: Compression, obviously.
gollark: You can, if you believe in yourself.
gollark: The most idiomatic way to write C is to make all things `uintptr_t` and cast whenever you need operations done.
gollark: If they dislike it then <:bismuth:810276089565806644> them utterly.

References

  1. Mungall, Christopher J.; McMurry, Julie A.; Köhler, Sebastian; Balhoff, James P.; Borromeo, Charles; Brush, Matthew; Carbon, Seth; Conlin, Tom; Dunn, Nathan (2017-01-04). "The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species". Nucleic Acids Research. 45 (D1): D712–D722. doi:10.1093/nar/gkw1128. ISSN 1362-4962. PMC 5210586. PMID 27899636.
  2. 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; 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). "The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species". Nucleic Acids Research. doi:10.1093/nar/gkz997.


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