Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.

ABSTRACT:

Background

Rare copy number variants (CNVs) are associated with risk of neurodevelopmental disorders characterised by varying degrees of cognitive impairment, including schizophrenia, autism spectrum disorder and intellectual disability. However, the effects of many individual CNVs in carriers without neurodevelopmental disorders are not yet fully understood, and little is known about the effects of reciprocal copy number changes of known pathogenic loci.AimsWe aimed to analyse the effect of CNV carrier status on cognitive performance and measures of occupational and social outcomes in unaffected individuals from the UK Biobank.

Method

We called CNVs in the full UK Biobank sample and analysed data from 420 247 individuals who passed CNV quality control, reported White Britis

SUBMITTER: Kendall KM 

PROVIDER: S-EPMC6520248 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature