Deciphering Developmental Disorders study
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
scientific research
genetic research project |
| gptkbp:collaboratesWith |
gptkb:Genomics_England
|
| gptkbp:country |
gptkb:United_Kingdom
|
| gptkbp:dataSource |
gptkb:European_Genome-phenome_Archive
|
| gptkbp:focus |
developmental disorders
rare genetic diseases |
| gptkbp:fundedBy |
gptkb:UK_Department_of_Health
gptkb:Wellcome_Trust |
| gptkbp:goal |
identify genetic causes of developmental disorders
|
| https://www.w3.org/2000/01/rdf-schema#label |
Deciphering Developmental Disorders study
|
| gptkbp:impact |
improved diagnosis rates for rare diseases
|
| gptkbp:method |
exome sequencing
|
| gptkbp:notablePublication |
gptkb:Deciphering_Developmental_Disorders_Study,_Nature,_2015
|
| gptkbp:organizer |
gptkb:NHS_Regional_Genetics_Services
gptkb:Wellcome_Sanger_Institute |
| gptkbp:participants |
children with undiagnosed developmental disorders
their parents |
| gptkbp:size |
over 13,000 families
|
| gptkbp:startDate |
2011
|
| gptkbp:website |
https://www.ddduk.org/
|
| gptkbp:bfsParent |
gptkb:Matthew_Hurles
|
| gptkbp:bfsLayer |
6
|