Summary
The applications relate to a method of identifying a relevant copy number variant (CNV) for a particular phenotype. CNVs are modifications of a genome which result in cells having an abnormal number of copies of a particular region of the genome. Such variations can lead to modifications of gene expression in the cell. It is known in the prior art that CNVs can occur in normal (i.e. healthy) individuals and that certain CNVs are also associated with various diseases/phenotypes. The invention provides a method which can identify CNVs in human (GB0822081.6) or non-human (GB1104294.2) subjects wherein a reference data set is used to eliminate ‘normal’ CNVs identified as being present in a high resolution screen in an individual with a phenotype, thereby identifying a CNV which causes a particular phenotype.
The Hearing Officer applied the structured Windsurfing/Pozzoli approach and found that the inventions claimed in both applications lacked an inventive step. She went on to apply the four step test set out in Aerotel/Macrossan and found that the contribution made by the inventions in both applications fell within excluded fields, namely to methods of performing a mental act and to a computer program as such. Both applications were refused.