Cathal Seoighe

A gene-centric analysis of copy number variation reveals tumour suppressor modulation of cancer risk and novel associations with common diseases

Copy number variants (CNVs) are a significant source of genomic variation in humans. They can span large genomic regions that encompass whole genes and their flanking regions, having the potential to alter the number of functional copies in an individual. Typically, CNVs are analysed individually or combined into regio...