The last two years have seen a significant change in the field of genetic diagnosis , mainly due to the application of technologies next generation sequencing (NGS , next generation sequencing) in medium-capacity devices.
The development of these instruments, together with the launch of commercial kits to study a limited number of genes, has allowed the use of the NGS for mutational study on a small number of samples in a short period of time, in a cost – effective , and with the quality required for genetic diagnosis . Despite the availability of laboratory protocols for the various platforms, it is needed analytical expertise to get results with clinical validity . One of the critical steps is the interpretation of huge amount of data, which implies the need to develop bioinformatics tools to facilitate data interpretation and implementation of the NGS routine laboratories.
Unit Molecular Diagnostics ( UDM) has presented a free , accurate and easy web tool to use for the analysis of data resulting from the GS Junior sequencing (Roche ) gene high-risk cancer susceptibility. This algorithm detects and filters sequence variants , also providing multialineaments and coverage information , and allowing the user to customize some basic parameters . The identified variants are classified with the information in the Database of Mutations of the ICO , which is updated regularly and contains most of the variants identified in the analysis of over 3000 probandi of families with hereditary breast and ovarian cancer, hereditary colorectal cancer nonpolyposis classic and attenuated familial adenomatous polyposis for over 15 years. As such , the tool provides a classification of putative variants previously encountered in the cohort of patients tested in the LTM.
It is expected to assume a valuable support tool for users of this platform for the analysis of genes associated with hereditary cancer. The tool is available at the web address http://bioinfo.iconcologia.net/aplicNGS was recently published in the journal Human Mutation ( Lopez- Doriga et al “ICO amplicons NGS Data Analysis . A web tool for variant detection in common high -risk genes Hereditary cancer amplicons GS Junior Analyzed by next generation sequencing ” mutated Hum 14 November 2013 doi : . . 10.1002/humu.22484 [ Epub ahead of print] ) .