As more clinicians and researchers come to rely upon genetic data in their quest to combat thousands of devastating human diseases and conditions, accurate and speedy analysis of that constantly expanding body of data becomes increasingly critical. Addressing this need, Moscow startup iBinom has released the beta version of a cloud-based SaaS (Software as a Service) solution for NGS (next-generation-sequencing) data interpretation. The company describes the iBinom solution as a true revolution in clinical interpretation of human genome and exome data. Geared to the physician or geneticist who isn't necessarily a computer geek - and that would probably describe most professionals in those fields - iBinom's beta version is currently available for free at ibinom.com.
This should be welcome news to medical centers, research centers, and sequence providers everywhere, notes iBinom's co-founder, Valery Ilinsky.
Ilinsky explains, "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." At present, he adds, tools offered by his firm's closest competitor take at least three hours to accomplish only part of the task that iBinom's data interpreter completes in half an hour. In addition, iBinom provides users with a clear report that does not require a programmer or a bioinformatician to understand.
Co-founded Ilinsky and the company's CEO Andrey Afanasyev, iBinom currently has offices in Moscow and St. Petersburg in Russia, as well as in Los Angeles. The firm has assembled a group of highly skilled programmers, several of whom have won global competitions in algorithms and programming, such as TopCoder, CodeForces, ACM, ICPC, IPSC, Google Code Jam. Ilinsky says iBinom anticipates a brisk demand for its service as prospective customers discover the advantages it provides over tools currently in use.
Ilinsky explains that iBinom was designed 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. "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," he says. "The incorporation of whole-genome and whole-exome sequencing into clinical practice will undoubtedly change the way genetic counselors and other clinicians approach genetic testing."
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 harbor more than 95% of disease-causing mutations. In fact 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. Exome sequencing can in some cases even be a more efficient (and therefore less expensive) alternative to whole-genome sequencing. This is particularly so in the detection of rare causal variants of Mendelian disorders. Since the exome makes up such a small portion of the genome, it is possible to obtain, with relatively few reads, the deep coverage necessary for the detection of variants. Exome sequencing also offers advantages over traditional genetic linkage studies, the latter of which require studying a large number of affected individuals. With rare Mendelian disorders there simply are not large numbers to study.
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 200GB of genetic data per patient, which is analyzed 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 greatly delays total turnaround time and decreases the sequencing capacity of service providers, as genome analyzers currently in use can take many hours to generate raw data for only one human genome.
By contrast, iBinom offers a simpler, faster - and ultimately more affordable - 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 proprietary algorithms of data analysis, the use of Amazon and Yandex IaaS (Infrastructure as a Service) has provided iBinom with the edge that allows production of a single human genome analysis in only half an hour.
Pricing is expected to be flexible and affordable compared to what is currently available. iBinom's SaaS business model allows customers to pay a fixed price for each analysis and a monthly fee for storage.
Says Ilinsky, "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 3,000 inherited conditions with known genetic origin. 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."