GenomicsStandardsConsortium / mixs

Minimum Information about any (X) Sequence” (MIxS) specification
https://w3id.org/mixs
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Consolidate disorder and disease terms #554

Open ramonawalls opened 1 year ago

ramonawalls commented 1 year ago

Current term details There are a number of terms for specific diseases or disorders. I suggest replacing them with a single term that allows multiple values from a disease ontology (e.g., DO). Different extensions could provide specific lists of diseases and disorders that are allowable within a package.

Term name - disease
Structured comment name - disease
Definition - If the sequenced organisms (for MIGS or similar) or host (for MIMS or similar) has a disease or diseases at the time of sample, list the disease(s).
Expected value - ontology term
Value syntax -
Example -
Preferred unit - n/a
Package(s) - tbd

NOTE: I need to supply some more details here. Just getting the issue in as a placeholder.

Suggested update(s) Please supply the new suggestions for any of the details listed below (only insert text to those details that should be updated):

Term name - 
Structured comment name - 
Definition - 
Expected value - 
Value syntax -
Example -
Preferred unit - 
Package(s) - 

Additional context Add any other context about the update request here, e.g. why you think this needs to be updated.

lschriml commented 1 year ago

Let's go through the packages and create a list of disease related terms. Some packages had specific types of diseases that they wanted reported, for those we can recommend a branch of the DO, e.g. cardiovascular diseases Cheers, Lynn

On Tue, May 23, 2023 at 12:30 PM Ramona Walls @.***> wrote:

Current term details There are a number of terms for specific diseases or disorders. I suggest replacing them with a single term that allows multiple values from a disease ontology (e.g., DO). Different extensions could provide specific lists of diseases and disorders that are allowable within a package.

Term name - disease Structured comment name - disease Definition - If the sequenced organisms (for MIGS or similar) or host (for MIMS or similar) has a disease or diseases at the time of sample, list the disease(s). Expected value - ontology term Value syntax - Example - Preferred unit - n/a Package(s) - tbd

NOTE: I need to supply some more details here. Just getting the issue in as a placeholder.

Suggested update(s) Please supply the new suggestions for any of the details listed below (only insert text to those details that should be updated):

Term name - Structured comment name - Definition - Expected value - Value syntax - Example - Preferred unit - Package(s) -

Additional context Add any other context about the update request here, e.g. why you think this needs to be updated.

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-- Lynn M. Schriml, Ph.D. Associate Professor

Institute for Genome Sciences University of Maryland School of Medicine Department of Epidemiology and Public Health 670 W. Baltimore St., HSFIII, Room 3061 Baltimore, MD 21201 P: 410-706-6776 | F: 410-706-6756 @.***