EPICENTER - Employing High Performance Computing System for Building up a Germline Variant Calling Pipeline for Human Whole Genome Data

National Initiatives for Open Science in Europe - NI4OS, 2022-2023
Principal Investigator: Dr Biljana Stankovic, IMGGE
Participants: Dr Maja Stojiljkovic, dr Branka Zukic, dr Valentina Djordjevic, dr Danijela Drakulic, dr Nikola Kotur, dr Mirjana Novkovic, dr Vladimir Gasic, Sasa Todorovic

The analysis of the human whole genome by next generation sequencing (NGS) technologies produces hundreds of giga base pair information per one sample. In order to interpret this massive data and identify variations in the genetic code that could be disease causing or influence person’s response to therapy, sophisticated bioinformatics analysis is required. This bioinformatics analysis requires large storage and computational power, which makes high performance computers (HPC) preferred choice for whole genome sequencing (WGS) data analysis. The aim of the Project is to construct a Germline Variant Calling Pipeline for processing human whole genome data sets produced by the MGI DNBSEQ technology, which is being used at the Center for genome sequencing and bioinformatics at IMGGE. The bioinformatics analysis will be performed on PARADOX HPC system provided by the Institute of Physics (University of Belgrade), a member of NI4OS. Optimized and validated pipeline will be made available to the scientific community in order to analyze their WGS data more efficiently and to facilitate molecular diagnostics.