Initiative for standardization of the format of the next-generation sequencing (NGS) results

摘要

The number of published reports using next-generation sequencing (NGS) technology in cancer research is increasing. These technologies generate large amounts of data that need to be appropriately presented and available to other researchers for further use. Our goal was to create a comprehensive database with single nucleotide polymorphisms (SNPs) associated with different types of cancer to integrate them to our bioinformatics tools. We reviewed more than 200 scientific papers and extracted relevant information on mutations detected by NGS technology. The current version of the database contains more than 100.000 mutations in more than 70 types of cancer. However, our review of NGS studies revealed great variation in presentation of NGS data in scientific literature with almost no effort for standardization of the data format. NGS results are published in a variety of forms which hinders the gathering of information. Therefore we suggested a uniform format for presenting the NGS data. This will allow faster database development, easier access and data sharing between the laboratories. The database will be a useful tool to many researchers in the field of cancer research and can be a base for a range of studies such as genome-wide association studies, microRNA target binding, and development of cancer biomarkers research.