Cartagenia Inc. and Interactive Biosoftware LLC (IB) jointly announced today that they have entered into an agreement under which Cartagenia will integrate IB’s Alamut gene visualization software into its BENCHlab platform, a web-based software and database platform that interprets genomic variation in routine diagnostics. The combined solution merges the variant data, filtering, interpretation and management capabilities of the BENCHlab platform with the annotation and visualization capabilities of the Alamut software. Cartagenia and IB will each market the combined solution to their respective customers, while continuing to sell their own products independently.
André Blavier, CEO of Interactive Biosoftware, called the alliance between the companies a natural fit.
“This partnership with Cartagenia makes perfect sense,” Blavier said. “Next generation sequencing (NGS) is now migrating from elite academic centers for use clinically and commercially in laboratories and medical centers worldwide. To facilitate this broader use, the combination of our technologies is a natural and important step. Our Alamut solution is now extended with capabilities which were previously unavailable to us, such as patient database management, massively parallel variant filtering, and advanced lab reporting.”
Since early in 2012, a number of genetics labs have successfully set up their NGS diagnostics on the BENCHlab NGS platform with Alamut embedded in their workflow, and are pleased with the integrated experience, noted Herman Verrelst, CEO of Cartagenia. The high level of automation and the lab-validated variant filtration pipelines in BENCHlab are perfectly complemented by the Alamut gene browser that allows lab technicians to visualize specific variants of interest.
“After the launch of our BENCHlab NGS solution earlier this year, we have seen a strong adoption by existing customers as well as by new genetics labs that are rolling out next generation sequencing platforms in clinical diagnostics,” Verrelst said. “Many of these customers were already using the Alamut software for data interpretation and visualization. A technical integration of the two systems provides a single workflow experience. We now also have a commercial agreement with IB through which our customers can obtain the Alamut solution directly from us under a singe license agreement and under favorable commercial terms once they go to higher data and user volumes, which is anticipated with the introduction of NGS platforms.”
With the combined software, candidate variants are assessed in detail and then labeled as a clinical finding on the patient findings in BENCHlab, seamlessly tying in with its template based lab reporting system, and managed variant databases. Additionally, with BENCHlab, the lab gets access to clinical information that allows assessing variants in context of phenotype, and has the option to integrate findings and conclusions with a Lab Information Management system or the Electronic Health Record System at the lab or hospital.
Blavier added that IB will continue to focus on building the core Alamut product and provide the highest-quality product to the market, as IB has done in the past.
“We have recently extended the software with BAM file visualization features and introduced Alamut-HT, a high-throughput annotation engine for NGS- generated variant files,” Blavier said. “This software enriches raw NGS variants with multiple attributes including effects on human genes, single nucleotide polymorphisms information, and missense and splicing predictions. The latest version includes annotations from HGMD, the Human Gene Mutation Database, and from ESP, the NHLBI Exome Server Project.”