Lisbon, Portugal
Assessing HiFi genomes as first-tier analysis in rare disease genetic research
Dr. Alex Hoischen from Radboudumc discusses groundbreaking advancements in genetic research and technology. He highlights the installation of their second HiFi sequencing system and their collaborative efforts with PacBio.
Single cells and long-reads - a multiomic power couple
Dr. Jonas Demeulemeester, Assistant Professor at the Leuven University Center for Cancer Biology, presents on the study of somatic variation and its impact on complex genetic mutations over a lifetime. He emphasizes the importance of multi-omics technologies to bridge the gap between genotypes and phenotypes.
One year of Revio sequencing at NGI Uppsala
Dr. Adam Ameur from SciLife Lab, Sweden’s national genomics facility, presented on their extensive use of genome sequencing technologies. where they specialize in both short and long read sequencing, including international projects.
Genomic surveillance of pathogens and AMR in the environment
Dr. Marina Reyne, PhD, from Queen’s University Belfast, details her research on environmental pathogens and modeling infectious disease spread in wildlife. She shared their first promising results using the PacBio Onso system short-read technology.
Scaling reference-level genome publications to fill the library of the Tree of Life
Dr. Caroline Howard from The Wellcome Sanger Institute discusses the Tree of Life programme, which aims to assemble reference-level genome assemblies for eukaryotic species. The programme’s main project, the Darwin Tree of Life, seeks to sequence 70,000 species from Britain and Ireland.
Pangenome- and structural variant-based association testing in domestic cattle and their wild relatives
Dr. Hubert Pausch, Professor of Animal Genomics, ETH Zurich, presented on the use of pan-genome wide association testing to identify structural variants linked to traits in cattle and their wild relatives.
Long-read RNA sequencing applications for undiagnosed rare disease patients
Dr. Carolina Jaramillo Oquendo, Research Fellow at the University of Southampton, presents how the new PacBio Kinnex kits can be used in rare disease research.
Long-read sequencing of 500 genomes from a cohort of Alzheimer's disease patients and cognitively healthy centenarians
Alex Salazar, PhD, from Amsterdam UMC, presents his latest research on sequencing 500 human genomes, evenly split between Alzheimer’s patients and cognitively healthy centenarians, using the Sequel IIe platform from PacBio.
