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French Informatics Firm Touts 'Mutation Interpretation' as Key Differentiator of its Data-Analysis Software

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By Uduak Grace Thomas

Interactive Biosoftware this week released a new version of its flagship data-analysis software targeted at a mutation diagnostics clientele in the medical molecular genetics space.

The company believes that its product is a cut above the rest because it goes beyond identifying mutations in genomic sequences to providing interpretations of the consequences of genomic variations, Francis Wolinski, chief technology officer and one of the founders of the Rouen, France-based company, told BioInform this week.

Acccording to Wolinski, the software, dubbed Alamut, lightens the research workload because it "collects and integrates relevant molecular and clinical data" culled from multiple databases and provides "a number of prediction algorithms to help scientists make sense of variants."

The new release features user-defined custom tools and usability enhancements and support for the GRCh37 genome assembly, as well as RefSeqGene and Locus Reference Genomic sequences. The new version also integrates data from the Human Gene Mutation Database.

Wolinski explained that Alamut is a rich client that is installed locally and connects to host servers maintained by Interactive Biosoftware.

On the server, which Wolinski said is updated regularly, the firm collects and integrates data on mutations gathered from multiple databases including RefSeq, dbSNP, Uniprot, InterPro, the UCSC Genome Browser Database, Ensembl, and PubMed.

Furthermore, Alamut incorporates several prediction algorithms — including SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer — as well as variant scoring methods namely; PolyPhen-2, SIFT, and Align GVGD.

"The idea is to give to the user a single access to all the data or in silico prediction [tools] that are needed [to analyze] mutations ... in a convenient user interface," Wolinski said. Thus, researchers who need access to genetic information and tools to analyze it don’t have to search for it themselves, he added.

Pricing for a single software license is $5,000 with an additional $1,500 yearly fee for continued access to the data on the servers, maintenance costs, and software updates. Furthermore, the price is lowered if additional licenses are purchased.

Wolinski said that the firm plans to incorporate additional functionality into the system in the future and also plans to develop a version of the tool that can handle next-generation sequence data.

In fact, the firm already has a prototype of its NGS offering that it is currently testing with some customers internally. Wolinski said that the company hopes to have something for the market later this year.

In addition to its flagship offering, Interactive Biosoftware offers a variety of free software including Canova, a tool that analyzes copy number variations; Talamut, text-mining software for searching for genetic mutations in published literature, which is also incorporated in Alamut; and GeneSplicer, a system that detects splice sites.

Interactive Biosoftware was founded by a team of medical doctors and computer scientists in 2007 with the goal of providing practical software applications for healthcare and life sciences. Currently, the company has five employees.

So far the firm says its software has been adopted in over 170 hospitals, diagnostic, and research labs globally including several "well-known" institutions in the US. A list of its clients is available on the company's website.


Have topics you'd like to see covered in BioInform? Contact the editor at uthomas [at] genomeweb [.] com.

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