Learn how PacBio highly accurate long reads enable an improved approach to whole genome sequencing to understand the genetic origins of rare diseases.
This landmark study by members of the Telomere-to-Telomer Consortium is the first fully complete assembly to be produced 20 years after the initial drafts of the human genome.
In this video Shawn Levy, Discovery Life Sciences’ Chief Scientific Officer, along with Cheryl Heiner, PacBio Principal Scientist, discuss the advantages of HudsonAlpha Discovery’s specialized sequencing services for PacBio HiFi…
In this talk, speakers provide an understanding HiFi sequencing methods for resolving viral diversity in complex systems, examples of how HiFi sequencing can phase entire viral genes or genomes, revealing…
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,…
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 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.
Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal-dominant disorder caused by an expanded intronic pentanucleotide repeat in the ATXN10 gene. This repeat expansion when fully penetrant can be typically…
In this talk, Dr. Flora Tassone focuses on the identification of alternative splicing isoforms at the FMR1 locus (both sense and antisense direction) in individual carriers of the FMR1 premutation…
Many neurological diseases result from expansion of unstable variable nucleotide tandem repeats (VNTRs) that influence gene transcription of neighboring genes. In this talk, Dr. Henne Holstege presents research that investigated…
In this presentation, Dr. Marka van Blitterswijk shares the exciting results of her most recent targeted long-read sequencing study. Together with her colleagues, she performed No-Amp sequencing to examine an…
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…
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