[Obo-human-phenotype] Extra topic for Group Call

[Peter R. <pet...@ch...>]

Hi all,

at the bottom of this page is our nearly complete mapping for the LDDB 
categories.

http://www.human-phenotype-ontology.org/index.php/downloads.html

  We will use this to analyse the data in the DECIPHER database (which 
will switch from LDDB to HPO this Fall)

https://decipher.sanger.ac.uk/application/

Basically, the diseases in DECIPHER are CNV disease where there is loss 
or gain of a chromosomal segment containing usually 5-30 genes. Our 
question is how well one can use the single-gene data in OMIM to predict 
where the phenotypes in the CNV diseases come from.

We would like to expand this with mouse data, and I would like to talk 
about this tomorrow!

-cheers Peter

-- 
PD Dr. med. Peter N. Robinson, MSc.
Institut für Medizinische Genetik
Charité - Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin
Germany
voice: 49-30-450566042
fax:   49-30-450569915
email: pet...@ch...
http://compbio.charite.de/
http://www.human-phenotype-ontology.org