Uploaded October 2025 | Updated September 2026, 4 hours ago
At PRISM 2025 Athens, Professor Lili Milani of the University of Tartu details the Estonian Biobank's initiative to sequence 10,000 genomes. This presentation covers the comprehensive technology comparison that led to the selection of PacBio HiFi sequencing for its robust performance in resolving complex genomic variations.
The project's goal is to create a high-quality imputation reference panel for Estonia's 212,000-person biobank. Professor Milani outlines the results of a head-to-head comparison of long-read technologies on biobanked DNA samples. The data showed PacBio's particular strength in accurately detecting indels and structural variants, which proved critical for analyzing challenging pharmacogenes like CYP2D6. This performance advantage prompted the team to redesign their study from a mixed-technology approach to sequencing all 10,000 samples with HiFi reads.
Now operating at scale with three Revio systems, the Estonian team is achieving a throughput of 144 genomes per week. Professor Milani shares early discoveries from the first 2,000 completed genomes, including novel pharmacogenomic findings. These include a rare CYP2D6 allele configuration and a previously uncharacterized deletion in CYP2C19, discoveries that have already prompted enhancements to analysis tools.
00:00 Introduction: Estonia's 10,000 genome project
04:58 Comparing long-read sequencing platforms
07:08 Indel and structural variant detection
08:50 Analyzing the complex CYP2D6 pharmacogene
12:54 Switching to 10,000 all-HiFi genomes
14:00 Scaling production with the PacBio Revio system
19:02 Novel pharmacogenomic discoveries
23:22 Next steps: imputation and epigenomics
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
At PRISM 2025 Athens, Professor Lili Milani of the University of Tartu details the Estonian Biobank's initiative to sequence 10,000 genomes. This presentation covers the comprehensive technology comparison that led to the selection of PacBio HiFi sequencing for its robust performance in resolving complex genomic variations.
The project's goal is to create a high-quality imputation reference panel for Estonia's 212,000-person biobank. Professor Milani outlines the results of a head-to-head comparison of long-read technologies on biobanked DNA samples. The data showed PacBio's particular strength in accurately detecting indels and structural variants, which proved critical for analyzing challenging pharmacogenes like CYP2D6. This performance advantage prompted the team to redesign their study from a mixed-technology approach to sequencing all 10,000 samples with HiFi reads.
Now operating at scale with three Revio systems, the Estonian team is achieving a throughput of 144 genomes per week. Professor Milani shares early discoveries from the first 2,000 completed genomes, including novel pharmacogenomic findings. These include a rare CYP2D6 allele configuration and a previously uncharacterized deletion in CYP2C19, discoveries that have already prompted enhancements to analysis tools.
00:00 Introduction: Estonia's 10,000 genome project
04:58 Comparing long-read sequencing platforms
07:08 Indel and structural variant detection
08:50 Analyzing the complex CYP2D6 pharmacogene
12:54 Switching to 10,000 all-HiFi genomes
14:00 Scaling production with the PacBio Revio system
19:02 Novel pharmacogenomic discoveries
23:22 Next steps: imputation and epigenomics
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
