A Web Application for Editing Gene Panel Configurations

Abstract

For use in personalized medicine DNA sequences are processed into genetic variants which is then annotated for further use. In this process gene panels, lists of genes and corresponding values, are used as input to an automated process. Sometimes these gene panels are in need of modification and quality control. By using modern technologies I have created a functional prototype for a web application that allows the users to edit these gene panels and save them for further use in the bioinformatic pipeline. Background information includes theory about decision support systems, genetics, general technological advancement, and information about a couple of clinical decision support systems, all used as a basis for the rest of my thesis. My experience through the project shows that it can be possible to solve problems within a larger information system by removing it from it and solving it fairly independently, allowing for integration with the larger system in the future. While doing so it also allows the users, who are the ones experiencing the problem in the first place, to get their problem solved to a certain degree, thereby getting instant value from the project.