monarch-initiative/GENO-ontology
Repository for representing genotypes and their association with phenotypes
Makefile
Issues
- 1
Implement github action to run a geno release
#64 opened by mbrush - 7
Add textual definitions for zygosity terms.
#63 opened by mbrush - 5
Add support for concept "nullizygosity"
#62 opened by ppavlidis - 4
Change GENO license from CC-BY-SA to a CC-BY 4
#56 opened by matentzn - 1
- 14
Representing uniparental disomy
#43 opened by mbrush - 0
- 3
Include OBO and JSON as released files
#42 opened by kltm - 1
Questionable IRIs
#12 opened by ccondit - 1
new inheritance terms
#50 opened by sbello - 0
stalk/short arm and acen terms
#49 opened by TomConlin - 4
RO compatibility issue
#47 opened by matentzn - 2
Do not use raw github URLs in imports
#44 opened by cmungall - 0
geno-developer imports itself
#45 opened by cmungall - 1
- 1
Alternative label on http://www.geneontology.org/formats/oboInOwl#hasDbXref in geno.owl
#40 opened by dosumis - 1
Mechanism of Pathogenicity terms
#39 opened by mbrush - 6
Mode of Inheritance classes
#22 opened by mbrush - 1
- 0
Represenetaiton of copy number variation
#38 opened by mbrush - 1
Typo in label for GENO:0000147
#37 opened by beckyjackson - 8
Integration issues with SciGraph
#36 opened by kshefchek - 3
- 4
- 0
- 1
Add 'diplotype' class
#32 opened by mbrush - 6
- 0
Collect set of GENO competency questions
#30 opened by mbrush - 0
- 10
promoters driving expression
#20 opened by nlwashington - 3
karyotype
#16 opened by nlwashington - 2
haplotype
#23 opened by nlwashington - 2
geno0000846
#28 opened by TomConlin - 0
Use OBO obsoletion policy for retired IRIs
#27 opened by cmungall - 2
Add slides or link to slides in this repo
#26 opened by cmungall - 1
Document how gene interactions are modeled
#25 opened by cmungall - 3
Typo in the human taxon name
#24 opened by jnguyenx - 2
germline vs somatic variants
#19 opened by nlwashington - 1
reference and alternate base properties
#21 opened by nlwashington - 1
genetic disease polygenic vs. monogenic
#18 opened by mellybelly - 1
need more chr stains
#17 opened by nlwashington - 1
epigenetic genotype (epitype?)
#15 opened by nlwashington - 0
SO term requests
#14 opened by mbrush - 0
- 0
sex chromosomes in non-mammals
#10 opened by nlwashington - 0
Align with DDGENMOD
#9 opened by cmungall - 0
Add classes of genetic sex
#8 opened by selewis - 2
Map GENO to HPO inheritance/dominance
#6 opened by mbrush - 0
susceptable_to relationship
#7 opened by mbrush - 0
IMPReSS assays and phenotypes for KOMP2
#5 opened by mbrush