Partner: MOLDIMED

Field: bioinformatics

within the Center of Competence for Molecular Diagnostics and Personalized Medicine project under the Technology Agency of the Czech Republic, where we jointly collaborate with CEITEC, University Hospital Brno, University Hospital Olomouc, GENERI BIOTECH s.r.o., IntellMed, s.r.o., Palacký University Olomouc, and the Institute of Molecular Genetics of the Czech Academy of
Sciences.

Massively parallel sequencing (MPS) approaches play a key role in clinically focused research and DNA molecular
pathology diagnostics. The concept of personalized medicine thus replaces classical approaches, which are often methodically time-consuming in terms of covering long DNA sequences. Whole Exome Sequencing (WES), amplicon sequencing of long PCR products, and sequencing of gene panels associated with specific diseases are all methods currently used to verify genetic risk factors. MPS methods such as WES, in particular, generate a huge amount of data, which needs to be further processed.

Therefore, a platform for processing next-generation sequencing (NGS) of data for detecting hereditary and
somatic DNA variants was developed within the Center of Competence for Molecular Diagnostics and Personalized Medicine project under the Technology Agency of the Czech Republic. The platform is applicable for genomic/exome and panel DNA sequencing projects.

The main objective of the platform is to provide researchers focused on clinical MPS data with easy and intuitive access to the HPC infrastructure via a specialized web interface. The platform contains its own annotation tool developed by the MOLDIMED centre and
a number of freely available bioinformatics tools. The platform is currently being operated in two independent
instances using the HPC infrastructure of IT4Innovations and MOLDIMED centres.

Web platform for MPS data processing.