Deciphering Developmental Disorders study

URI: https://gptkb.org/entity/Deciphering_Developmental_Disorders_study
GPTKB entity
Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:genetic_research_project
gptkb:scientific_research
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
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
https://www.w3.org/2000/01/rdf-schema#label Deciphering Developmental Disorders study