What is it about?
This software was developed for unified management of clinical information and genome analysis data in easy and simple way.
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Why is it important?
Recent advances in next-generation sequencing have given rise to new challenges due to difficulties in variant pathogenicity interpretation and large dataset management, including many kinds of public population databases as well as public or commercial disease-specific databases. Here, we report a new database development tool, named the “Clinical NGS database,” for improving clinical next-generation sequencing workflow through the unified management of variant information and clinical information.
Perspectives
This database software offers a two-feature approach to variant pathogenicity classification. The first of these approaches is a phenotype similarity-based approach. This database allows the easy comparison of the detailed phenotype of each patient with the average phenotype of the same gene mutation at the variant or gene level. It is also possible to browse patients with the same gene mutation quickly. The other approach is a statistical approach to variant pathogenicity classification based on the use of the odds ratio for comparisons between the case and the control comparison for each inheritance mode.
Shin-ya Nishio
Shinshu Daigaku
Read the Original
This page is a summary of: The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification, Human Mutation, January 2017, Wiley,
DOI: 10.1002/humu.23160.
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