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Thursday, August 19, 2021

Application Brochure: Gene editing validation with HiFi reads

With highly accurate long reads (HiFi reads) from the Sequel IIe System, powered by Single Molecule, Real-Time (SMRT) Sequencing technology, you can efficiently and cost effectively validate gene editing techniques including adeno-associated virus (AAV) and CRISPR-Cas9 approaches.

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Thursday, August 19, 2021

Application Brochure: Scalable human whole genome HiFi sequencing for rare and inherited disease research

PacBio highly accurate long reads – HiFi reads – offer a single-platform solution for rare and inherited disease research, elucidating suspected genetic causes of disease in up to ~50% of cases that have not previously been explained using short-read exome or whole genome sequencing. PacBio offers an efficient workflow, developed in collaboration with Children’s Mercy Kansas City, which provides a scalable solution for sequencing 100s to 1000s of whole human genomes per year on the Sequel II and Sequel IIe Systems.

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Thursday, August 19, 2021

Application Brief: Variant detection using whole genome sequencing with HiFi reads – Best Practices

With highly accurate long reads (HiFi reads) from the Sequel II or IIe Systems you can comprehensively detect variants in 100s to 1000s of genomes in a year. HiFi reads provide high precision and recall for single nucleotide variants (SNVs), indels, structural variants (SVs), and copy number variants (CNVs), including in difficult-to-map repetitive regions.

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Tuesday, June 15, 2021

Long-read Sequencing and Optical Mapping of ATXN10 Repeat Expansion

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 expected between 850 and 4500 repeats or 4.25 to 22.5 kb. Current diagnostic assays using PCR-based methods or Southern blotting cannot accurately size or resolve the genomic structure of the ATXN10 repeat. In this talk, Dr. Birgitt Schuele elaborates that CRISPR-Cas9 enrichment/single molecule real time (SMRT) sequencing technology and optical mapping now allow for accurate sizing of the repeat expansion, repeat composition, and can resolve somatic mosaicism, which are critical…

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Tuesday, June 15, 2021

Altered Alternative Splicing Process in FMR1 Premutation Carriers

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 allele, using the SMRT Sequencing approach. The characterization of a transcriptional profile could help to define a biomarker for monitoring disease progression and development.

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Tuesday, June 15, 2021

Uncovering Neurological Disorders Through an Examination of VNTRs

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 VNTRs across several genomes including a 115-year-old cognitively healthy individual. She and her group found that the genes that contained most VNTRs, of which PTPRN2 and DLGAP2 are the most prominent examples, were found to be predominantly expressed in the brain and associated with a wide variety of neurological disorders.

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Tuesday, June 15, 2021

Long-read Sequencing to Assess an Expanded Repeat in C9orf72

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 expanded GGGGCC-repeat in C9orf72, which causes fatal neurodegenerative diseases. Her team assessed the length of the C9orf72 expansion, as well as the presence of interruptions, thus revealing relevant clinico-pathological associations and demonstrating how powerful No-Amp sequencing is.

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