The Greek Research Infrastructure for Personalised Medicine

pMedGR aims to become a regional hub for the implementation, coordination and integration of personalized medicine approaches in South-East Europe, as part of a global network, offering centralized information on patient stratification, susceptibility factors and response to treatments for relevant regional populations. This hub will serve as a single entry point for researchers and industry with an interest in targeting this area. Greece’s strategic geopolitical position, which correlates with genetic characteristics that may be important to health and disease, render it ideal to serve as a paradigm for personalized approaches targeting an extended regional area, including south Italy, the Balkans, Turkey etc. Through pMedGR, Greece has the potential to become a South-East European Node for Personalized Medicine, linking Europe to emerging markets such as Asia, Africa and the Middle East.

All Units apply an open access policy. Users may contact the infrastructure centrally through an online form (Service & Info request form: www.precisionmedicine.gr/service-request-form) for further processing of their requests or to acquire information on offered services.

1) Genomics and Transcriptomics Unit - https://www.precisionmedicine.gr/genomics-transriptomics-unit
The Unit is equipped with a NextSeq 550 Illumina system, which combines the power of high-throughput, next generation sequencing with a workflow that enables rapid sequencing of genomic DNA and transcriptomes in a single run and with the flexibility to switch to low-or high-throughput sequencing as needed. Services include:
• Targeted/Exome sequencing: amplification- or hybridization capture-based enrichment and sequencing
• Transcriptome Sequencing: 3’mRNA-SEQ, mRNA-SEQ
• DNA Methylation analysis: Reduced Representation Bisulfite Sequencing (RRBS)
• SARS-CoV2 genome Sequencing: de novo, re-sequencing
• Single-Cell RNA sequencing (scRNA-SEQ)
• Chip/FAIRE-SEQ, ATAC-SEQ, miRNA-SEQ

2) Single Cell analysis unit - https://www.precisionmedicine.gr/single-cell-analysis-unit
The Unit is equipped with a Chromium Controller 10X Genomics system for processing and analysis at the single cell level using microfluidic processing. It offers streamlined services from single cell suspension processing to cell encapsulation and library prep and allows capturing and processing from 200-80,000 cells per run for high-throughput single-cell RNA-Seq gene expression analysis and epigenetic single-cell ATAC (Assay for Transposase Accessible Chromatin) sequencing.

3) Single Cell Mass Cytometry Unit - https://www.precisionmedicine.gr/mass-cytometry-cytof-unit
The Unit is equipped with a 3rd generation Ηelios Mass Cytometer (CyTOF), which combines two technologies: flow cytometry and inductively coupled plasma mass spectrometry, allowing deep profiling of translational and clinical research samples at single-cell level. Suspension mass cytometry technologies allow the simultaneous measurements of over 40 parameters at single-cell level, as well as in depth cell profiling including phenotypic, functional, signaling, transcription factors, apoptosis and cell cycle analysis. The technology allows identification of rare populations, as well as multiple cell populations tracing in a single sample.

4) Data analysis and Bioinformatics Unit - https://www.precisionmedicine.gr/data-analysis-bioinformatics-unit
The Unit provides bioinformatics and data analysis resources for individual medical genomic application including:
• Read alignment to reference genomes and quality control
• Whole Exome and Genome analysis
• DNA variant identification, filtering and basic annotation
• RNAseq-based gene/transcript quantification and differential expression analysis
• Single cell RNA-seq analysis and identification of different cell population clusters
• Statistical analysis and Visualisation
• SARS-CoV2 genome analysis, variant identification and de novo assembly
The Unit is equipped with a DELL PowerEdge R740 server, 512 GB RAM, 100TB storage, 44 Cores / 88 Threads.