Rare genomic copy-number variants (CNVs) have been implicated as causative factors in a number of complex diseases including schizophrenia, autism and congenital heart disease (CHD). Many factors are known to increase the risk of these diseases and, in recent years, developments in sequencing and array-based platforms have enabled investigation into the genetic factors that contribute to these conditions. Previous studies have identified rare CNVs in specific regions that associate with these diseases but there has been relatively little investigation into the occurrence of these CNVs in the wider population. Using the data generated through the UK Biobank?s genotyping project, the aim of this study is to assess the prevalence of rare CNVs in the UK population. Improved characterisation of rare CNVs associated with disease will facilitate gene discovery and in turn develop increased understanding of the influence of genetics in complex disease. This will ultimately impact future healthcare as it will enable earlier diagnosis in children and families affected by these conditions, improving the development of personalised care pathways. Using the Biobank genotyping data, we will call CNVs and compare these with CNVs previously implicated in disease phenotypes to gain a greater insight into the prevalence of these ‘rare’ events in the wider population. This study would use the UK Biobank genotyping data (full cohort).
