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Artificial Intelligence RNA-seq

Periodic Reporting for period 1 - AIR (Artificial Intelligence RNA-seq)

Reporting period: 2017-03-01 to 2017-08-31

The advent of new technologies has genomics extending its reach into many diverse fields, from biomedicine to agriculture to clinical diagnostics. Whole-genome sequencing is filling the gap in our understanding of not only genome sequence but also of genome organization, genetic variation, differential gene expression and diverse aspects of transcriptional regulation. The sequencing platforms of today (Next Generation Sequencers) are much more powerful and faster, but they also generate huge volumes of data (Big Data) which needs to be sorted, organised, curated, annotated, integrated, analysed and interpreted. Bioinformaticians have a key role here as they have the necessary combination of biological and informatics knowledge. However, because the technology grew so rapidly, there is a worldwide lack of availability of skilled personnel, which is one of the key factors restraining the growth of this market. This gap in the market has resulted in a bottleneck in terms of data analysis, storage and interpretation, whereby most geneticists and biologists are left struggling to manage their own data due to the sheer volume and complexity of it. Most tools available today require scientists to be well versed in programming and scripting in order to run them, which they are not. Also, due to the diversity of applications in genomics, bioinformaticians rarely have the depth of knowledge required to truly understand the biological “problem” of the researcher, and thus are unable to come up with a practical solution. Our product is a breakthrough solution which aims to target this gap between data production and analysis, specifically in the study of transcriptomics via RNA Sequencing. RNA Sequencing, introduced in 2010, has rapidly established itself as the number one method for transcriptome studies and, in turn, transcriptomics is the most relevant omic science. Our solution is called A.I.R: Artificial Intelligence RNAseq. A.I.R. is the first SaaS (Software as a Service) solution of its kind: an easy-to-use software built with solid scientific methods. A.I.R. is revolutionary in that it is able to solve three important obstacles in the genomics field simultaneously: i. the informatics problem (specifically data storage, automatization of results and duration of analysis) ii. the scientific problem (data interpretation and data integration, as well as providing new bioinformatic and statistical functions) iii. the social problem (the lack of availability of skilled bioinformaticians). The overall objective of this project is to introduce a disruptive innovation that will allow researchers to perform transcriptomics data analysis easily, quickly and affordably. The specific objectives are to improve A.I.R.’s current performance to take it from its current TR7 (trial) stage to its final version, and to carry out a feasibility study to launch A.I.R. into the market.
Over the course of the last 6 months Sequentia has taken the necessary steps to take AIR from TR7 Beta phase to the fully-operational TR9 final version, which is currently on the market and has attracted 30 users in its first month since the launch. In terms of its technical and by-product feasibility, Sequentia has carried out 5 months of beta-testing with 93 users and in this time has fixed small bugs with the pipeline; incorporated changes to maximise cloud scalability and capacity; improved the bioinformatic and statistical approaches used; enhanced the overall functionality of the platform and adjusted its commercialization plans according to the feedback received and the observed needs, habits and preferences of said beta-testers. The economic and financial requirements were determined using our own internal calculations as well as support from relevant specialists in market research, ultimately producing a report that includes upfront starting investment requirements; forecasted sales and costs for the next 5 years in a range of less to more conservative scenarios and number of analysed RNASeq samples required to break-even. This stage also produced a business plan prepared by a specialized consulting group to determine the market opportunity, competitive analysis, recommended commercialization strategy and pricing for AIR, which was used in conjunction with the actual results obtained during the Beta-phase to determine the best go-to-market strategy. Sequentia has also successfully finished developing the necessary promotional materials with the help of various graphic designers and undertook various planned dissemination actions (attending and exhibiting at conferences, arranging seminars) to garner the number of necessary users for an effective beta-phase test. Since the launch of AIR at the beginning of June, Sequentia is immersed in a full-on promotional campaign using various different communication and dissemination activities from which it intends to learn from and optimize during this summer so as to focus on the most effective methods going forward to achieve its sales target. Finally, Sequentia has taken on the required organizational changes to sustain growth by hiring permanent staff, subcontracting specialists and setting up fixed collaborations for additional support. Sequentia has also taken steps to protect AIR legally to the extent possible in this domain.
AIR presents several innovations that go beyond the state of the art, namely in its: ease-of-use, as all other tools assume at least a medium level of bioinformatics knowledge; speed, as none of the others offer automated analysis; coverage, as most competitors focus on biomedicine/model organisms whereas AIR covers any sequenced species; robust, updated scientific methods and algorithms as other options have gradually become outdated or do not publish their methods at all, which makes researchers unwilling to use them because they want to be able to trust the tools (and thus their results) and also, they must quote all their methods when publishing a paper. All in all, AIR is the most complete package at the most reasonable price, as its competitors are only able to match one or two of AIR’s characteristics but not all of them e.g. an open-source (free) pipeline which is not user-friendly.
AIR Infographic