The first patient-derived iPSC model of AHCY deficiency-mediated myopathy, telomere-to-telomere long-read genome sequencing, and correction of the pathogenic variant by genome editing. Funded by the Croatian Science Foundation.

Development of an automated system that turns genome data into pharmacogenetic and nutrigenetic recommendations. Co-funded by the European Union through the European Regional Development Fund.

Research and development of a digital identity wallet for secure storage of a personal genome, integrating long-read whole-genome sequencing and automated analysis of monogenic diseases. Co-funded by the European Union through the European Regional Development Fund.

A European project establishing secure capacity for storing and processing genomic data for the 1+ Million Genomes initiative and the future Genome EDIC. Co-funded by the European Union under the Digital Europe Programme.

The Beyond 1 Million Genomes plus (B1MGplus) project helps build a European cross-border network of genomic and clinical data to improve healthcare outcomes.

The project provides coordination and support to the 1+ Million Genomes (1+MG) initiative, a commitment by 25 EU countries and Norway to enable secure access to genomic and clinical data across Europe, supporting research, health policy and personalised healthcare.

Uspostava istraživačke infrastrukture za translacijsku medicinu i primjenjenu genomiku s ciljem korištenja visoko-propusnih metoda temeljena na DNA čip tehnologiji za buduće aktivnosti tehnološkog transfera

The largest infrastructure project with the highest budget in natural sciences ever to be conducted in Croatia will foster a research pipeline at the RBI and facilitate innovation and technology for the investigation of relevant diseases such as cancer.

Although variants of uncertain significance (VUS) cannot be clearly defined and classified, VUS make up about 40% of the total variants in human, and their impact on the function or health of the organism is not known. It is necessary to implement a new and systematic experimental approach for the characterization of VUS at high throughput, and to contribute to the reduction of the amount of VUS in the relevant databases for a better understanding of genomic variation in humans.

EASIGEN-DS is about the establishment of a distributed European Research Infrastructure (RI) on Advanced Genomics Technologies. The project aims to become a world-leading research infrastructure in genomics, which is fully integrated into the European landscape. The project is expected to strengthen European capacity in sequencing technology, with a particular focus on third-generation sequencing offering longer reads and the ability to sequence without the need for amplification, and on single cell genomics and spatial transcriptomics.

The GoE project will create the first large-scale repository of genomic and phenotypic data in Europe, filling an important existing gap and removing dependence from non-European repositories for research and clinical applications. At the same time, it will also improve competitiveness by building key expertise and facilities for large-scale genomic analyses paving the way for additional data collection in the future. This project will bring Europe in line with similar ongoing projects in other countries including the US, China and Qatar. The benefits for society include applications in personalised medicine as well as the development of intellectual property in the EU based on complex large-scale genome data.