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monarch-initiative / monochrom

Standardized identifiers and OWL classes for chromosomes and chromosomal parts across species

http://monarch-initiative.github.io/monochrom/

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Open matentzn opened 3 years ago

matentzn commented 3 years ago

@cmungall

cmungall commented 3 years ago

From the README:

The use cases for this "ontology" are:

To provide standardized identifiers and PURLs for chromosomes and chromosome parts
To be used as an import to other ontologies; e.g. to define trisomies for diseases
To provide a source of nodes in knowledge graphs
For text mining purposes
As a nexus for mapping efforts where other terminologies have incorporated chrosomes or their parts (NCIT, MESH, etc)

cmungall commented 3 years ago

also:

convenient place to get locations for all bands in major genomes

these can be used to trivially do overlap queries with genes, e.g. to auto-label a gene as being from location L

this is also useful for mendelian chromosomal diseases. E.g. if a gene deletes a setof bands we can easily look up genes