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