Ten thousand participants from the Estonian Biobank are to have their entire genome sequenced, using the latest and most advanced sequencing technology from PacBio.
The next phase of the population health research project will have huge implications for health policies and strategies in Europe and globally, with data generated by sequencing used to calculate risk scores for cardiovascular disease and cancer.
The entire human genome will be sequenced and analyzed by the Institute of Genomics of the University of Tartu using the Revio HiFi sequencing system from PacBio. In addition to unlocking more diverse data, the system will also allow researchers to analyze complex variations, including repetitive regions and pseudogenes.
Additionally, Revio gives researchers access to the epigenome. This second layer of genomic information is often unexplored, but it has notable implications in oncology.
Lili Milani, head of the Estonian Biobank and professor of pharmacogenomics at the University of Tartu, Estonia, said: “The 10,000 long-read whole genomes will bring a new dimension of understanding Estonian population genetics and bring us closer together Biobank's goal is to achieve benefits for people's health locally and internationally. We are particularly excited about the possibilities for research into polygenic risk scores for cardiovascular disease and cancer, as well as predicting patients' responses to medications based on their genetic makeup.
The Genomics Institute has acquired three Revio systems, which will allow it to reach its goal of 10,000 genomes within two and a half years. The data is expected to lead to a new level of understanding about the genetics of cardiovascular disease, mental, reproductive and women's health, cancer and rare diseases as well as treatment outcomes.
The program recently announced funding from the European Commission and the Estonian government to help the country adopt personalized medicine at scale and adapt public health systems to the biology of its population.
The Estonian Biobank already holds samples from 20 percent of the country's adult population – a significant figure considering the UK Biobank the samples represent just 0.7 percent of the UK population.
Until now, samples for the Estonian biobank were genotyped using microarray-based methods. However, the data generated using this method is low resolution and has limited scope for detecting complex or unknown variants. They also rely on reference genomes, meaning results may be biased toward participants from well-represented demographic groups.
Christian Henry, President and CEO of PacBio, said: “The team chose PacBio HiFi technology over other long- and short-read offerings because of its ability to sequence complete and precise genomes at a scale and economically competitive. This project is yet another example of Revio's ability to provide its customers with a differentiated solution for large whole genome sequencing projects involving several thousand samples.