We have developed custom software that can query large genomic and phenotypic data sets that can automatically query associations. We also address the issue that current geno/phenotypic analysis doesn’t scale well on large data sets. Hence, there is a growing necessity for storing, accessing and processing this data in the new scalable models of service providers such as cloud computing. We have configured a custom built hardware platform, along with a unique and novel software architecture that can scale up to large data centre computing systems.
We have also taken steps to develop a scalable HPC framework that allows the semantic interlinking between spatially distributed electronic patients’ health records, associated genomic markers and published research, thereby allowing clinicians to make reasoned queries over vast knowledge bases for the diagnosis, treatment and management of malignant melanoma. We also recognise that while the potential of genomic data integrated with EHRs is enormous, the privacy and ethical issues are significant and any corrupted data, either through accidental or malicious modification, could be detrimental to patient well-being. To that end we have ensured compliance with European and national legislation with regard to the publication, access to and reuse of the patients’ personal and healthcare data, taking into consideration data anonymity, privacy, ownership, security and authorized access issues. We have also developed a custom security layer that ensures patient privacy.
So far the following deliverables have been achieved:
WP1: Clinical End User Requirements: Stakeholder register , Requirements Specification, System architecture, User acceptance test and traceability matrix, Ethical approval and audit trail.
WP2: High-performance computing: HPC Pipeline, Gene expression software.
WP3 Cloud Hardware Infrastructure and Platform Implementation: Semantic data model, Interactive user interfaces design,
WP4: IT Security: Context-aware policies access model
WP5: SAGE-CARE Platform Integration the following deliverables have been achieved: Data access layer
A project website is hosted on www.sage-care.eu along with a social media campaign at @nsilico
Open days and careers nights hosted at the Discover Research Dublin along with the iWISH workshop to promote careers in science to girls.
An number of Workshops and conferences including CERC
http://www.cerc-conference.eu/(odnośnik otworzy się w nowym oknie) were held along with Researcher Training and Transfer of Knowledge Events
A number of open access peer reviewed Publications, Articles in Print and an eBooks have been published.
