Free beta version of iBinom genomic data interpreter

With more clinicians and researchers coming to rely on genetic data in their quest to combat disease, Moscow start-up company iBinom has released the beta version of a cloud-based SaaS (software as a service) solution for NGS (next-generation-sequencing) data interpretation. The product is suitable for medical centres, researcher centres and sequence providers.

iBinom’s co-founder, Valery Ilinsky, said the company was formed to address a dual problem faced by genetics researchers and clinicians alike: an overabundance of data, and a need to make sense of that data. He explained, “The number of sequenced genomes is growing exponentially, and if it keeps increasing at the current rate, approximately 25 million genomes will have been sequenced by 2016.”

Ilinsky said iBinom has “developed one of the most precise algorithms presently available to determine rare pathogenic mutations among millions of non-pathogenics. Our solution is the fastest available as well - only 30 minutes from start to results.” In addition, iBinom provides users with a clear report that does not require a programmer or a bioinformatician to understand.

The exome, which is part of the human genome, is significant because, although it comprises a minute fraction of the genome, mutations in the exome are currently believed to harbour more than 95% of disease-causing mutations. Exome sequencing has proved to be an efficient strategy to determine the genetic basis of more than a hundred Mendelian (single-gene) disorders thus far. It also offers advantages over traditional genetic linkage studies, which require studying a large number of affected individuals.

Many clinicians are limited by currently available tools because human genome sequencing for clinical purposes is associated with detailed and precise big data analysis, Ilinsky notes. Initial raw data includes approximately 200 GB of genetic data per patient, which is analysed using either desktop applications or SaaS. However, Ilinsky says, current methods require special knowledge to interpret this massive amount of data, and do not provide medical reports. This delays total turnaround time and decreases the sequencing capacity of service providers, as genome analysers can take many hours to generate raw data for only one human genome.

By contrast, iBinom is said to offer a simpler and faster means of genomic data interpretation. The user-friendly interface was designed for physicians and geneticists, but no special programming or bioinformatics expertise is required and a medical report may be downloaded in one click. In addition to its fast algorithms of data analysis, the use of Amazon and Yandex IaaS (infrastructure as a service) allows production of a single human genome analysis in only half an hour.

“iBinom has devoted a great deal of time, effort and expertise to developing advanced algorithms for accurate, speedy analysis of all of 30,000 human genes that could be linked to an estimated 3000 inherited conditions with known genetic origin,” said Ilinsky. “We anticipate that iBinom will finally take next-generation sequencing out of the laboratories and into the hospitals and clinics, who will finally be able to routinely use exome sequencing and whole genome sequencing to diagnose their patients and manage their care.”

iBinom’s beta version is currently available for free at http://www.ibinom.com/.