The MedQL Variant Prioritizer plug-in connects with our online database to prioritize a list of variants in gene regions based on the degree of association with a given phenotype. MedQL’s underlying database contains more than 20 million articles from Medline, indexed using a dictionary of 280,000 terms from curated ontologies such as HUGO, the Human Disease Ontology and OMIM.

Using CLC Genomics Workbench, a common workflow to detect causative mutations in medical genomics involves steps of read mapping and variant detection. The result is a list of candidate gene variants that differ from the reference genome. The MedQL plugin uses an evidence-based approach to prioritize these genes for functional studies and thereby allowing researchers to focus efforts on the most promising candidates.

Features of the Full Version

The MedQL Variant Prioritizer uses a secure connection to communicate with our server. The plug-in is limited to queries of 7500 genes. If you need to score larger gene sets or process more than 10 queries per day, please contact us directly at info@bioql.com.

About

The MedQL plug-in is developed and maintained by BioQL.com. Read more about the MedQL plugin and other products from BioQL on the BioQL.com web site.