Joseph T. Glessner, of the Center for Applied Genomics at the Children’s Hospital in Philadelphia recently invented a new software tool that will revolutionize accuracy in genetic disease studies. The software called ParseCNV is an algorithm that “detects copy number variation associations with higher levels of accuracy than that available in existing software,” says Mr. Glessner. This incredible software automatically corrects for variations in the length of deleted or duplicated DNA sequences from one individual to another and produces high quality, replicable results for researchers studying genetic diseases.
CNV stands for copy number variations which are sequences of DNA, ranging from 1000 to millions of nucleotide bases, which may be deleted or duplicated. These CNV’s are very difficult to find because they are so rare but so important in the discovery of genetic diseases. Previous methods to find the link between CNV’s and disease involved individual case-control studies, in which diseased DNA is compared to healthy DNA. This method does not work accurately because different people have different CNV’s which can effect the outcome of the diagnosis.
ParseCNV is incredible in that it can account for and adjust to so many differences in genes and has so much versatility in that it is applicable to family studies and quantitative analyses of continuous traits. I am really looking forward to seeing the future of this amazing algorithm and its contributions to genetic research.