Simple and User Friendly
Simple Set Up
Clinical NGS DB is built on FileMaker Pro ver. 12 to facilitate easy start up and easy maintenance for non-PC specialists such as wet lab researchers or clinicians. It can easily be used to build its own database on either a Windows or Macintosh platform with FileMaker Pro software (FileMaker Inc.).
If you have already installed FileMaker Pro ver. 12 or later in your computer, you can set up your own database by simply downloading and unzipping the database software.
Easy Operation
Clinical NGS DB has many graphical user interfaces for changing the layout or linking to other databases. There is no need for command line operation or deep computer knowledge.
Automatic Variant Filtering
Clinical NGS DB has an auto variant filtering function to assist in efficient clinical diagnosis. Filtering parameters of this auto filtering function can be changed to the appropriate values. Clinical NGS DB uses the values listed below as the filtering parameters..
1) Minor allele frequencies in 1000 Genomes Project, EVS6500, ExAc.
2) Mutation position and type of amino acid change.
3) in silico prediction score (SIFT, PolyPhen2).
4) Minor allele frequencies in the in-house control.
5) QD score (sequencing quality).