The Uk Biobank: A Resource For Cnv Analysis.

Background The UK Biobank is a unique resource for biomedical research, with extensive phenotypic and genetic data on half a million adults. We wanted to call all pathogenic CNVs in the first 150,000 participants and examine the cognitive performance and phenotypic characteristics of their carriers. Methods We used Affymetrix Power Tools and PennCNV-Affy software to analyse 152,728 Affymetrix microarrays in batches of ~4,600 from the first data release. We annotated a list of 93 CNVs that have been proposed to be pathogenic. Results The frequencies of the 93 CNVs were remarkably similar to those among 26,628 controls from other datasets. Carriers of neurodevelopmental CNVs performed worse on cognitive tests and had lower educational and occupational attainment. Carriers of CNVs with known phenotypes displayed the expected characteristics, e.g. increased or reduced BMI in 16p11.2 deletions and duplications carriers. Discussion The UK Biobank is the largest population study that allows the study of the effect of CNVs on cognitive and physical phenotypes. The set of CNVs will be made available for use by the scientific community. [ABSTRACT FROM AUTHOR]