OBOFoundry / Operations-Committee-RETIRED

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GENO prefix/domain creation request #160

Closed GoogleCodeExporter closed 7 years ago

GoogleCodeExporter commented 9 years ago
Ontology Title: 
The Genotype Ontology (GENO)

Description: 
GENO models genetic variation in a way that mirrors the conceptual components 
implicit in genotype representations - from a full genotype representing 
variation across an entire genome, down to allelic variants and single 
nucleotide polymorphisms. These components of a genotype are represented as a 
partonomy that supports integration of G2P data where phenotype annotations are 
made at different levels in this partonomy.  Ongoing work in GENO will model 
the structure and provenance of G2P associations, including relations between 
units of genetic variation, phenotypes and environments, and supporting 
evidence for these associations. GENO is an open source ontology.  It is 
orthogonal to the sequence ontology, and we are working with SO developers to 
align representations and re-use common terms where there is overlap/contact 
between the ontologies. Official documentation is under development, but a high 
level overview can be found in the slide deck here: 
http://www.slideshare.net/mhb120/brush-icbo-2013.

Download link:  
https://raw.githubusercontent.com/monarch-initiative/GENO-ontology/master/geno.o
wl 

Home page:  
https://github.com/monarch-initiative/GENO-ontology/blob/master/README.md

Contact: Matthew Brush

Mailing-list (if any):  
none yet

Tracker link:  
https://github.com/monarch-initiative/GENO-ontology/issues

Publication (if any): 
Conference paper - "What’s in a Genotype?: An Ontological Characterization 
for Integration of Genetic Variation Data". Link: 
http://ceur-ws.org/Vol-1060/icbo2013_submission_60.pdf

PURL user name: 
mbrush

obo-discuss thread: 
http://sourceforge.net/p/obo/mailman/message/33062470/

Original issue reported on code.google.com by bru...@ohsu.edu on 20 Nov 2014 at 7:28

mcourtot commented 7 years ago

Merged PR.

mcourtot commented 7 years ago

You need a PURL too, correct? http://purl.obolibrary.org/obo/geno.owl

mcourtot commented 7 years ago

All done - thanks @jamesaoverton