In this talk, Dr. Meredith Course presents her research on uncovering a 69-bp human-specific tandem repeat expansion in the final intron of WDR7. Larger repeat copy number is significantly associated…
In this talk, Dr. Stephanie Tome describes using PacBio Single Molecule, Real-Time (SMRT) Sequencing to precisely measure large CTG repeat size and identify sequence interruptions of expanded allele to understand…
In this talk, Dr. Zachary McEachin describes how No-Amp targeted sequencing enables sequencing analysis of multiple (at least 15) Ataxia-related repeat expansion loci in one assay, presenting example sequencing results…
Through Pharmacogenomics (PGx), we can explore how a person’s genome affects their response to drugs to enable the development of safe and effective medications tailored to their genetic makeup. In…
Join PacBio’s Mike Weiand to hear how gene editing protocols can benefit from long-read sequencing at multiple stages to optimize and enhance vector integrity. This method allows researchers to reveal…
The Sequel IIe System produces highly accurate long reads (HiFi reads) quickly and cost-effectively thanks to increased computational capacity and on-instrument data processing. This results in a significant reduction of…
With highly accurate long reads (HiFi reads) of >99% accuracy, the Sequel IIe System is the tool of choice for producing reference quality assemblies, calling variants with the highest precision,…
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…
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…
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…
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…
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