Wikipedia

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

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Mondo ontology is product of the Monarch Initiative and provides harmonized disease content for diseases and disorders, both rare and common.[2] The rare disease subset has been published with >10.5 rare diseases,[3] and is maintained by the community.[4]

References

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  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. 48 (D1): D704–D715. doi:10.1093/nar/gkz997. PMC 7056945. PMID 31701156.
  3. ^ 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). "How many rare diseases are there?". Nature Reviews. Drug Discovery. 19 (2): 77–78. doi:10.1038/d41573-019-00180-y. ISSN 1474-1776. PMC 7771654. PMID 32020066.
  4. ^ "Rare disease subset - Mondo Documentation". mondo.readthedocs.io. Retrieved 2024-09-05.
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