GENO-ontology

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Change GENO license from CC-BY-SA to a CC-BY 4

4

There are a few problems with SA licenses. Think of HPO: if it were to reuse GENO terms, (which would be merged in the release), you will end up, technically,...

matentzn

grouping term for population, strain, background, fish, genotype, model?

1

Data sources use a variety of modeling elements to describe the collection of genetic elements that together produce a particular phenotype or contribute to disease progression. We'd like one abstract...

sierra-moxon

Representing uniparental disomy

14

The notion of uniprental disomy can be framed in different ways, to describe different aspects of biology: - a type of sequence alteration: [SO](https://www.ebi.ac.uk/ols/ontologies/so/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FSO_0001744), [Vario](https://www.ebi.ac.uk/ols/ontologies/vario/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FVariO_0209) - a phenotype: [MP](https://www.ebi.ac.uk/ols/ontologies/mp/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMP_0008867) -...

mbrush

I am working on a new term called taxon, which appears to be the same concept as http://purl.obolibrary.org/obo/GENO_0000113 (taxonomic group) (see PopulationAndCommunityOntology/pco#88). The label could just as well be taxonomic...

ramonawalls

new inheritance terms

1

We would like to request the following terms be added as children of inheritance pattern (GENO:0000141) chromosomal inheritance def: An inheritance pattern wherein the trait is determined by inheritance of...

sbello

Previously 'GENO:0000628' was "short_chromosome_arm" and continues to be used for this in Monochrom.py. to indicate the 'p' arm of a chromosome. Now GENO:0000628 is stalk" and is used for this...

TomConlin

RO compatibility issue

4

On our path to upgrading GENO to ODK, the following two issues came up: 1) GO_0003674 (molecular function) is hardcoded in GENO as function while RO asserts it to be...

matentzn

Do not use raw github URLs in imports

2

geno.owl includes ``` ``` In general I recommend a standard ODK setup

cmungall

``` ```

cmungall

term request: mosaic inheritance and/or genotype

1

I'm interested in modelling this ClinVar record: https://www.ncbi.nlm.nih.gov/clinvar/RCV000087646/ I assume mosaicism is more accurately described as a mode of inheritance rather than a genotype, but having some object and/or datatype...

kshefchek