2024 Prism video archive

video Collection

2024 PRISM Video Archive

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.

What we are missing?

Paul Kruszka, MD, Chief Medical Officer | GeneDx

High-accuracy fusion transcript detection from PacBio long-read isoform sequencing using CTAT-LR fusion

Brian J. Haas, PhD, Principal Computational Scientist | Broad Institute / Broad Clinical Labs & Methods Development Laboratory

Long-read low-pass sequencing unveiled

Josh Clevenger, PhD, Faculty Investigator | HudsonAlpha Institute for Biotechnology

Implementing long-read HiFi sequencing – Amplicon panel and genome sequencing

Stuart A. Scott, PhD, FACMG Professor, Pathology and Director, Clinical Genomics Laboratory | Stanford University

Closing the gap – Solving complex medically-relevant genes at scale

Fritz Sedlazeck, PhD, Associate Professor | Baylor College of Medicine

Assessing HiFi genomes as first-tier analysis in rare disease genetic research

Lisenka Vissers, PhD, Professor of Translational Genomics | Radboudumc, Nijmegen (NL)

Understanding AAV replication and packaging with SMRT sequencing

Phillip Tai, PhD, Assistant Professor | UMass Chan Medical School

BioDIGS BioDiversity and informatics for genomics scholars

Sidd Pratap, PhD, Associate Professor and Director, Bioinformatics Core | Meharry Medical College

Long-read metagenome assembly produces hundreds of high quality MAGs from wetland soil

Luis E. Valentin-Alvarado, PhD, Postdoctoral Scholar, Environmental Microbiology | Innovative Genomics Institute, University of California-Berkeley

Validating Cas13d-based isoform specific knockdown with long read RNA-seq

David A. Knowles, PhD, Assistant Professor, Computer Science & Systems Biology | New York Genome Center & Columbia University

Evaluating single-cell platforms for high-quality isoform sequencing

James Webber, PhD, Senior Computational Scientist | Broad Institute

Facilitating a potential increase of genetic diagnostic yield for pediatric sensorineural hearing loss using long read sequencing

Shelby Redfield, Genetic Counselor | Boston Children’s Hospital

Sentieon DNAscope LongRead – a CPU accelerated, highly accurate, award winning, fast, and efficient Germline snv, indel, and SV variant calling software for PacBio HiFi reads

Brendan Gallagher | Sentieon

The solution to accurate human microbiome research: PacBio long-read sequencing

Kyudong Han, PhD, Professor, Department of Microbiology | Dankook University

Long-Read Sequencing-Based Clinical Applications for Monogenic Disorders with Complicated Molecular Genetics

Aiping Mao, PhD, CTO | Berry Genomics

Beyond Short Reads: How HiFi Sequencing is Shaping the Future of Genomic Studies

Melissa Smith, PhD, Assistant Professor | University of Louisville

Crop genomics for food security and biodiversity

Prathiba Ravindran, Ph.D, Scientist, Laboratory of Biodiversity Genomics | Genome Insitute of Singapore, Agency for Science, Technology and Research.

Uncovering microbiomes of the rice phyllosphere using long-read metagenomic sequencing

Sachiko Masuda, PhD, Research Scientist | Plant Immunity Research Group, RIKEN Center for Sustainable Resource Science.

Decoding complexity – the future of RNA research with long-read sequencing technologies

Dr. Ko Tun Kiat, PhD.

Cancer Sequencing by binding rivals error-corrected sequencing by synthesis technology for accurate detection of very minor (<0.1%) populations

Stephanie Pond, PhD, Vice President, Emerging Opportunities | TGen.

Development and application of single-cell omics sequencing technology based on long-read platforms

Enze Deng | Guangzhou Laboratory

Deciphering the HLA influence on anti-rhepo induced PRCA: A comprehensive genomic analysis

Pajaree Chariyavilaskul

From Conservation to Cultivation: Revolutionizing Agricultural Biodiversity with HiFi Sequencing

Robert Henry, Professor of Innovation in Agriculture, Centre for Crop Science | University of Queensland

Enhancing RNA Insights: Welgene’s Advanced Analysis Pipeline and Reporting

Shing-jyh Huang Harriet | Welgene Biotech Taiwan

Germline and Somatic Mutational Process across the Tree of Life

Sangjin Lee, Senior Scientist, Bioinformatics | PacBio

Antimicrobial resistance research

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