Free Software Quickly Detects Gene Mutations Associated with Breast, Other Cancers

Free Software Quickly Detects Gene Mutations Associated with Breast, Other Cancers
Free, easy-to-use software called DECoN can detect gene mutations in breast, ovarian, and other cancers that previously needed to be identified by a separate test. DECoN, developed by researchers at The Institute of Cancer Research in London and the Wellcome Trust Centre for Human Genetics in Oxford, accurately detects changes in exons — copy number of blocks of DNA — which could improve the genetic mutations involved in breast cancer. The study reporting the development of the software, “Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN,” was published in the journal Wellcome Open Research. Most gene mutations are small DNA changes within an exon. These small changes are readily detected by targeted next generation sequencing (NGS) tests. However, accurate detection of deletions or duplications of whole exons, also known as exon copy number variants (exon CNVs), has proven to be problematic in targeted NGS data, particularly detection of single exon CNVs. Accurately detecting these gene variants is critical, as they represent the underlying cause of diseases. In the case of breast and ovarian cancer, about 10 percent of BRCA1 mutations are exon CNVs. The researchers developed DECoN (Detection of Exon Copy Number variants), as a cost-saving software tool that qu
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