MedQL Variant Prioritizer (Free Version)
The MedQL Variant Prioritizer plugin connects with our online database to prioritize a list of variants in gene regions based on the degree of association with a given phenotype.
The free version of the MedQL plug-in can process a maximum of 50 genes.
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.