Tricky gene mutations detected by free, fast, easy-to-use new software - UK research

Medical News
 November 25, 2016

Adapted Media Release

Published: Today

---

Scientists have developed an easy-to-use software tool that can detect important genetic mutations that previously needed to be identified by a separate test.
The software, called DECoN, accurately and quickly detects changes in copy number of blocks of DNA called exons, by analysing sequencing data already generated to identify smaller gene changes.
It was developed by researchers at The Institute of Cancer Research, London, and the Wellcome Trust Centre for Human Genetics, Oxford.
Most gene mutations are small DNA changes within an exon. These small changes are readily detected by DNA sequencing tests.
But sometimes whole exons are deleted or duplicated. These are called exon copy number variants (exon CNVs), and they are not easily picked up by standard DNA sequencing tests.
It is vital to be able to find these variants because they are an important cause of disease. For example, about 10 percent of the BRCA1 mutations that predispose women to breast and ovarian cancer are exon CNVs. In clinical testing laboratories a separate test has traditionally been used to detect exon CNVs, but this adds considerable time and cost, and is not available for all genes. Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons. DECoN does this automatically, adding only 30 minutes to the data analysis of up to 96 samples, and without costing any more.
The team performed extensive evaluations of DECoN including in more than 1,900 clinical BRCA tests where it successfully detected all the exon CNVs.....

 Professor Rahman added: "It's very important to us that our work can be as impactful as possible. We have made an easy-to-use version of DECoN freely available from www.icr.ac.uk/DECoN and the source code is also available."