Matthew Brush
Matthew Brush
Needed for ClinGen variant interpretation data modeling. HPO has just two classes already in this area - complete, incomplete, age-dependent.
Seems that there have been discussions/ideas happening about genotype/variant representation - with use cases/requirements coming from Monarch and other efforts (e.g. JAX, MGI, MPD, AGR, etc). I'd like to collect...
A rich and diverse set of CQs related to genotype representation and G2P associations would be useful for a number of purposes: - inform model development - document utility of...
We are generating an ontology of reference chromosomes and their parts (arms, regions, bands) from the UCSC chromosome band data ( see [dipper issue #42](https://github.com/monarch-initiative/dipper/issues/42) ). It is expected that...
Central Ticket for documenting all term requests for SO. 1. chromosome band staining intensity qualities presently implemented in GENO as placeholders. And then mireot to replace temp GENO classes. Also...
**Transferred from:** [NIF-11647](https://support.crbs.ucsd.edu/browse/NIF-11647) **Original Reporter:** Nicole Washington --- i notice that HPO has some dominance/inheritance terms. these should be reconciled some way with GENO. for example: http://www.human-phenotype-ontology.org/hpoweb/showterm?id=HP:0000006
**Initially reported on RO tracker:** https://code.google.com/p/obo-relations/issues/detail?id=31 **Original Reporter:** Nicole Washington _Such a relation is needed in GENO as well, so we should work to get this into the RO and...
**Duplicated from:** [NIF-11832](https://support.crbs.ucsd.edu/browse/NIF-11832) **Original Reporter:** Melissa Haendel _This modeling is related to the association model which will likely live in GENO for now, so duplicating from the NIF JIRA into...
**Transferred from:** [NIF-11935](https://support.crbs.ucsd.edu/browse/NIF-11935) **Original Reporter:** Melissa Haendel --- Not necessarily exactly the same, but see types from MGI: spontaneous chemically induced (all) chemically induced (ENU) radiation induced transposon induced QTL...
**Transferred from:** [NIF-11899](https://support.crbs.ucsd.edu/browse/NIF-11899) **Original Reporter:** Melissa Haendel --- This landmark paper describes the identification of chromosomal boundary regions. http://www-ncbi-nlm-nih-gov.liboff.ohsu.edu/pmc/articles/PMC3356448/ references other papers describing other types of chromosomal boundaries: A and...