Video Gallery

In this talk, speakers provide an overview of PacBio-recommended tools for metagenome sequencing analysis, where to download example test data, the typical performance for HiFi metagenome sequencing of fecal samples, the impact of read accuracy on metagenome assembly of long-read data, and finally, how deep sequencing that combines HiFi reads and Hi-C data can enormously increase recovery of high-quality MAGs and connect plasmids and viruses to host strains.

In this SMRT Science Journal Club talk, Phillip Tai from the University of Massachusetts Medical School discusses his investigation in the design compatibility of CRISPR components in AAV vectors.

In this SMRT Science Journal Club talk, Anoushka Joglekar from Weill Cornell Medicine discusses how she and her colleagues are developing tools to produce an isoform view of the brain in order to better understand developmental disorders and neurodegenerative disease.

In this CSHL Biology of Genomes 2021 virtual workshop, Michelle Vierra from PacBio discusses examples of how advances in highly accurate long-read (HiFi) sequencing have enabled exciting developments in plant and animal genomics, including phasing the transcriptome of a 27 gigabase polyploid plant.

In this CSHL Biology of Genomes 2021 virtual workshop, Jonas Korlach from PacBio discusses examples of how advances in highly accurate long-read (HiFi) sequencing have enabled new developments in SARS-CoV-2 surveillance.

In this CSHL Biology of Genomes 2021 virtual workshop, Aaron Wenger from PacBio discusses examples of how advances in highly accurate long-read (HiFi) sequencing have enabled exciting developments in human genome research, including sequencing the genomes of 100 individuals with unexplained diseases.

Alexander Hoischen’s research group ‘Genomic Technologies and Immuno-Genomics’ has expertise in the identification of rare disease genes using the latest genomics tools, with a recent particular focus on immune-related disease genes. His group has been the first to identify a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing, followed by the identification of several disease genes for rare diseases. Following a six-month research stint in 2013 in the laboratories of collaborators, Prof. Eichler and Prof. Shendure (UW, Seattle; USA), Dr. Hoischen established the latest technology for accurate and large-scale targeted re-sequencing (smMIPs) in Nijmegen. Recently, his group started to apply long-read sequencing and long-read mapping to unsolved rare disease cases and this talk presents his latest research.

In this talk, Dr. Matsumoto describes his research of a family with syndromic intellectual disability. Trio-base exome analysis could not find any culprit mutation. Therefore, he and his team applied trio-based HiFi long-read WGS using two flowcells for a patient and one flowcell each for her father and mother. Through systematic variant filtering, they could find a 12-kb copy neutral inversion disrupting a causative gene. In addition, they could confirm that the de novo inversion occurred on the paternal chromosome through the haplotype phasing. These data demonstrate the utility of HiFi long-read WGS in solving patients with rare diseases.

In this talk, Dr. Wenger describes how whole-genome sequencing (WGS) with accurate, long HiFi reads identify all the variations found with short reads plus small variants in difficult-to-map regions and structural variants across the genome. He further explains how HiFi reads also support direct phasing of variants into haplotypes. Researchers worldwide apply HiFi reads to explain rare disease cases unsolved by other technologies. Improvements in workflow, reliability, cost and throughput support the routine application of HiFi reads in large studies today and open a future of HiFi genomes as a standard tool for rare disease researchers.

Short-read genome-wide sequencing for molecular diagnosis has revolutionized pediatric rare disease care in the past decade. However, most families remain without specific knowledge of the cause of their child’s illness. We seek to understand how long-read sequencing (HiFi sequencing) and functional genomics can fill the gaps and identify most causes of genetic disease. Dr. Pastinen describes a health-system-wide initiative to translate the latest research approaches to end the diagnostic “odyssey” affecting rare disease families, observing an expanded range of variation and enhanced interpretation of known variation by integrating HiFi data to unsolved rare disease cases.