Assessing the Genomic Impact on Neurodevelopment (IMAGINE ID), 2014-2019: Secure Access
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https://datacatalogue.ukdataservice.ac.uk/studies/study/8621#doi
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<p>The <span style="font-style: italic;">Assessing the Genomic Impact on Neurodevelopment 2014-2019</span> (IMAGINE ID) study enrolled children and young people with developmental delay, learning difficulties or intellectual disability with a diagnosed genetic condition. IMAGINE ID aimed to answer a question parents often ask when their child has a genetic condition: “So what does this mean for my child?”.</p><p>The genotype-first study has to date recruited 3,402 individuals from NHS Regional Genetics Clinics throughout the UK, whose intellectual disability (ID) is associated with either a pathogenic Copy Number Variant (CNV-75.9 per cent or Single Nucleotide Variant (SNV-23.6 per cent) or both (0.5 per cent). 84 per cent of consented families provided standardised assessments, including measures of their child’s mental health and functional adaptation.</p><p>Further information about the study can be found on the&nbsp;<a href="http://www.imagine-id.org">IMAGINE ID</a> website.<br></p>
提供机构:
UK Data Service
创建时间:
2020-04-27



