Re: [Obo-human-phenotype] NHGRI GWAS catalog

[Chris M. <cj...@be...>]

On Jul 12, 2010, at 12:12 PM, Peter Robinson wrote:

> On 07/12/2010 08:52 PM, Chris Mungall wrote:
>>
>> http://www.genome.gov/page.cfm?pageid=26525384
>>
>> You can download it in a tab-del file:
>>
>> http://www.genome.gov/admin/gwascatalog.txt
>>
>> They use 364 distinct disease/trait strings (attached) - looks like  
>> it
>> wouldn't be too hard to map to HPO
>>
>
>
>
> Actually, many of these terms are diseases and as such not in the HPO.

Yes, I was originally thinking of equivalence mappings to both HPO and  
DO

> Also, there are traits such as eye color that are not in the HPO, as  
> well as terms such as LDL cholesterol where the term does not say if  
> increased/decreased or normal.

So perhaps mapping to normality-judgment free class expressions would  
be better.

> -Peter
>
>
>
> -- 
> PD Dr. med. Peter N. Robinson, MSc.
> Institut für Medizinische Genetik
> Charité - Universitätsmedizin Berlin
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