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monarch-initiative / GENO-ontology

Repository for representing genotypes and their association with phenotypes
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new inheritance terms #50

Open sbello opened 4 years ago

sbello commented 4 years ago

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 extra, missing, or re-arranged chromosomes possibly together with environmental factors.

chromosomal deletion inheritance def: An inheritance pattern wherein the trait is determined by inheritance of missing sections of one or more chromosomes, encompassing either 0 or multiple genes, possibly together with environmental factors. trying to distinguish this from monogenic inheritance child of : chromosomal inheritance

chromosomal duplication inheritance def: An inheritance pattern wherein the trait is determined by inheritance of duplicated sections of one or more chromosomes, encompassing either 0 or multiple genes, possibly together with environmental factors. child of : chromosomal inheritance

chromosomal rearrangement inheritance def: An inheritance pattern wherein the trait is determined by inheritance of translocation or inversion of sections of one or more chromosomes, possibly together with environmental factors. child of : chromosomal inheritance

mbrush commented 4 years ago

I added the terms as requested, so IRIs are now available:

chromosomal inheritance - GENO:0000969 chromosomal deletion inheritance - GENO:0000970 chromosomal duplication inheritance - GENO:0000971 chromosomal rearrangement inheritance - GENO:0000972

They are curently in the edit file, but should show up in OLS/Ontobee next week after a new release is cut.

@sbello one question is whether these terms might belong under 'multifactorial inheritance' (def = "An inheritance pattern that depends on a mixture of major and minor genetic determinants (i.e. alleles of more than one contributing genes), possibly together with environmental factors") . . . given that observed traits will we based on the effects of multiple genes/loci.

Happy to move these if you wish - but understand that it may not always be the case that multiple genes are involved/contribute to a trait with these chromosomal events. So I am happy to leave as they are as well.