The next-generation sequencing analysis for hereditary hearing loss

Abstract

Recent advances in next-generation sequencing have given rise to new challenges because of difficulties in variant pathogenicity interpretation and large dataset management, including many kinds of public population databases and public or commercial disease-specific databases. We developed a database software for improving clinical next-generation sequencing workflow through the unified management of variant information and clinical information. Based on this database software, we developed a central database system to manage the over 12,000 target re-sequencing analysis results and clinical information associated with the Japanese nation-wide deafness gene study consortium. This database is a powerful tool for genetic testing, especially for the variant pathogenicity classification based on large number of patients data.

We will also present the newly developed copy number analysis tool for social health insurance based genetic testing platform. Using this software, we performed the copy number analysis of a large Japanese hearing loss cohort (2,475 patients) and identified many gene copy number variants. The most prevalent copy number variation was STRC gene copy number loss, with 129 patients carrying this copy number variation.