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…
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….
Over the past few years, many tools have been developed to enable comprehensive variant detection from PacBio HiFi reads. This talk describes a flexible, modular workflow for variant detection and…
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…
In this talk, Christine Lambert describes a simple and scalable workflow for generating high-quality HiFi reads appropriate for comprehensive variant detection (SNVs, Indels, SVs) and de novo assembly. Using this…
In this talk, Dr. Ekholm describes how long-read sequencing is being incorporated for rare Mendelian disease research, why high accuracy matters in long-read sequencing, what can be detected with HiFi…
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…
In this talk, Aaron Wenger from PacBio uses industry examples to describe how using highly accurate long-reads, or HiFi reads, provides the most comprehensive result, giving you greater than 99.9%…
In this video, Dave Miller from PacBio and Alvaro Hernandez PhD from the University of Illinois Urbana- Champaign discuss how to create Core Lab demand using PacBio highly accurate long-read,…
PacBio Sequencing and software enable the generation of highly accurate (>99.9%) long reads. HiFi reads are accurate, essential, affordable, and can be used across a range of applications, including detection…
In this talk, Jonas Korlach, PhD, Chief Scientific Officer at PacBio describes how using PacBio HiFi reads, which are greater than 99.9% accurate and up to 25 kb long, led…
In this panel discussion, service providers share their experiences in bringing PacBio Systems to their labs, from the purchasing process, through managing demand for instrument time, and describe how PacBio…
Learn how HiFi reads are empowering leading core labs and service providers, and how the new Sequel IIe System, which directly outputs HiFi reads, is making it easier than ever…
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