World's first Cardiovascular specific whole genome analysis service, Resource for Life

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According to The World Health Organisation, 31% of all deaths are due to CardioVascular Disease (CVD), up to 80% of which can be avoided by supplying people at risk with vital preventative information to change lifestyle (KTN Horizon Toolkit)Storegene currently provides a preventative genetics service. This assesses DNA across 19 Single Nucleotide Polymorphisms (SNPs) to provide personalised reports on CVD risk.Our vision is to revolutionise this cardiovascular genetics test process using whole genome sequencing and machine learning techniques. This will sequence 3.2 billion base pairs of data, storing an individual's whole genome, and deploying machine learning to digitally provide multiple reports required by physicians. These will automatically be updated every day and available instantly in an intuitively accessible secure online portal.This will combine four specific reports using a single genome test to coverThe current process requires four different patient tests each at a cost of £250 taking a combined circa 6-10 weeks turnaround. This is inconvenient for the clinician, costly for the hospital and uncomfortable for the patient. It will be transformed using a lower cost all in one test that is significantly more reliable.Key objectives are* To research, develop and evaluate in a proof of concept the random forest machine learning process applied to whole genomes to assess CVD risk.* To evaluate the reports interface with an expert Cardiologist* To assess efficiency of delivery of the developed Resource for Life platformMain areas of focus are to lead industrial research in* Accuracy -- applying machine learning algorithms to improve polygenic risk score accuracy* Infrastructure -- database and processes* Interfaces -- emphasis on GDPR informed consentInnovation arises through* More accuracy - random forest machine learning to generate model* Business model - the Resource for LIfe report centre will automatically provide reports to physicians and patients* Complete dataset, for life - whole genome sequencing for all 3.2 Billion base pairs is all information now and forever, in one test.