QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.

ABSTRACT:

Background

Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis.

Results

Here we describe QueryOR, a web platform suitable for searching among known candidate genes as well as for finding novel gene-disease associations. QueryOR combines several innovative features that make it comprehensive, flexible and easy to use. Instead of being designed on specific datasets, it works on a general XML schema specifying formats and criteria of each data source. Thanks to this flexibility, new criteria can be easily added for future expansion. Currently, up to 70 user-selectable criteria are available, includin

SUBMITTER: Bertoldi L 

PROVIDER: S-EPMC5410040 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature