Informatics infrastructure

Goal

The goal of the subproject is the development of an e-Infrastructure and tools for the collection, management and analysis of bioinformatics data. The tools will support the (a) scaling of the number of diagnostic analyses that can be provided for medical applications regarding the research in the field of precision medicine and (b) the provision of services for the analysis of large-scale experiments; the results of these analyses will be used for the creation of computational models, that provide personalized predictions in regard to the diagnosis and response of patients to different treatments.

General information

Coordinator:
“ATHENA” Research Center(“ATHENA” RC)

Participating Entities:
1. “ATHENA” Research Center(“ATHENA” RC)
2. National Centre of Scientific Research “Demokritos”,
3. Foundation for Research and Technology Hellas (FORTH)
4. Hellenic Pasteur Institute (HPI)
5. Institute of Applied Biosciences – Centre for Research AND Technology Hellas (INAB – CERTH)

Επιστημονικός υπεύθυνος:
Prof. Yiannis Ioannidis (“ATHENA” RC)

Main activities

The e-Infrastructure will offer services for the management, synchronization, formatting and enrichment of the bioinformatics data that will be produced by the four Precision Medicine Units (PMUs) and will support two basic types of Precision Medicine (PM) workflows: diagnostic workflows and knowledge-discovery workflows.

Informatics

The first type deals with bioinformatics workflows for the personalized prediction and treatment of diseases regarding specific patients, which are based on service provision scenarios consisting of best-practices, guidelines and verified medical protocols. The infrastructure will also comprise certified commercial or other well-established pieces of software for sample analysis and diagnostics, putting an emphasis on the management and analysis of Next Generation Sequencing (NGS) data as well as personal genotype data.

These data will be combined with other biological / clinical data and data from international genomic / pharmacogenomic databases aiming towards the immediate increase of the PMUs’ ability to provide high-quality and precision diagnostic services to the public.

Knowledge discovery / Analytics

The second type deals with knowledge-discovery workflows for the analysis of bioinformatics data that will be provided by the first type of workflows and the association of these data with data from external sources. The relevant aim of the subproject is the implementation of a Big Data Healthcare Analytics platform that will support fundamental changes to the way bioinformatics data is collected and analysed, leading to changes in the way bioinformatics research is performed.

The platform will support the integration of knowledge and data from heterogeneous sources like bibliographical citations, encoding / sorting of proteomics, genomics, metabolomics, biological path data, data from disease genomic polymorphism databases etc.