This research is intended to discover new DNA variants that cause disease in Malta and may be developed into biomarkers for diagnosis or targets for the development of new drugs. The integration of structural with functional genomics should lead to the discovery of significant regulatory targets. The Lead Partner of this project – the University of Malta – shall, for the first time in Malta, develop a National Maltese Human Reference Genome (Database) in the form of a public database and a user-friendly web-based viewer. Together with the partner help of Complete Genomics, which is an established human genome sequencing facility based in the USA, the University of Malta shall be conducting the whole genome sequencing on selected Maltese DNA samples available from the established Malta BioBank located on campus. What initially costed 2 billion euros and took 10 years to complete (from 1990 to 2000), the whole human genome can now be sequenced in less than a day and under 1000 EUR per genome 1 . The setting up of a National Maltese Human Reference Genome database will have lasting benefits for the Health Sector and major impact on the society. Clinicians from all different sectors can then compare their patients’ results with this reference genome and pinpoint exactly the underlying molecular lesion. The patient can benefit from personalized treatment and medicine making it more efficient and cost-effective. The presence of this database will also in turn encourage clinicians to conduct, perform and order genetic tests to screen whole exomes/genomes of their patients, whereas previously they would have been reluctant if such a reference was unavailable.
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