SA63 HIGH RATES OF NEURODEVELOPMENTAL RISK CNVs IN PATIENTS WITH INTELLECTUAL DISABILITIES AND CO-MORBID PSYCHIATRIC DISORDERS
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.135
Abstract: Background Rare Copy Number Variants (CNVs) are known to be important risk factors for Neurodevelopmental Disorders (NDDs). Pathogenic CNVs identified to date confer moderate to large effect sizes (OR 1.5 - 50 or higher) and… read more here.
Keywords: risk; pathogenic cnvs; intellectual disabilities; morbid psychiatric ... See more keywords
Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
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DOI: 10.1136/jmedgenet-2018-105477
Abstract: Background Genomic CNVs increase the risk for early-onset neurodevelopmental disorders, but their impact on medical outcomes in later life is still poorly understood. The UK Biobank allows us to study the medical consequences of CNVs… read more here.
Keywords: pathogenic cnvs; analysis; cnvs; cnvs adults ... See more keywords
TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs
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DOI: 10.1186/s13059-022-02631-z
Abstract: Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering and automated classification, based on an… read more here.
Keywords: based prioritisation; annotation based; functional annotation; pathogenic cnvs ... See more keywords