Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:database
|
| gptkbp:access |
free
|
| gptkbp:citation |
Firth HV, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet. 2009.
|
| gptkbp:collaboratesWith |
global clinical genetics community
|
| gptkbp:dataSharing |
controlled access
|
| gptkbp:focus |
clinical genetics
rare diseases genomic variation |
| gptkbp:fullName |
Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources
|
| gptkbp:hostedBy |
gptkb:Wellcome_Sanger_Institute
|
| https://www.w3.org/2000/01/rdf-schema#label |
DECIPHER
|
| gptkbp:launched |
2004
|
| gptkbp:location |
gptkb:Hinxton,_United_Kingdom
|
| gptkbp:registration |
yes
|
| gptkbp:supports |
gptkb:Ensembl_genome_browser
gptkb:Human_Phenotype_Ontology |
| gptkbp:type |
copy number variation
phenotypic data genomic variants sequence variants |
| gptkbp:usedBy |
gptkb:researchers
clinical geneticists |
| gptkbp:usedFor |
variant interpretation
diagnosis of rare diseases genotype-phenotype correlation |
| gptkbp:website |
https://decipher.sanger.ac.uk/
|
| gptkbp:bfsParent |
gptkb:GeneCards
gptkb:Human_Phenotype_Ontology gptkb:Human_Phenotype_Ontology_Database |
| gptkbp:bfsLayer |
7
|