CLC bio and independent software vendor, BioQL, have announced the release of the MedQL Variant Prioritizer plugin for CLC Genomics Workbench, which connects with MedQL’s online database to prioritise a list of variants in gene regions based on their degree of association with a given phenotype.
The MedQL database contains more than 20 million articles from Medline, indexed using a dictionary of nearly 300,000 terms from authoritative ontologies, such as the HUGO Gene Nomenclature Committee (HGNC), the Human Disease Ontology, and the Online Mendelian Inheritance in Man (OMIM).
Using CLC Genomics Workbench, a common workflow to detect causative mutations in medical genomics involves read mapping and variant detection, resulting in a list of candidate gene variants that differ from the reference genome. The MedQL plugin uses an evidence-based approach to prioritise these genes for functional studies and enable researchers to focus their efforts on the most promising candidates.
The initial release of the MedQL plugin is a free version which can process a maximum of 10 queries of 50 genes per day. Later this year, a premium plugin without these restrictions will be made available for download directly from CLC bio's website.