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Thursday, August 19, 2021

Application Brief: Single-cell RNA sequencing with HiFi reads – Best Practices

With PacBio single-cell RNA sequencing using the Iso-Seq method, you can now distinguish between alternative transcript isoforms at the single-cell level. The highly accurate long reads (HiFi reads) can span the entire 5′ to 3′ end of a transcript, allowing a high-resolution view of isoform diversity and revealing cell-to-cell heterogeneity without the need for assembly.

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Thursday, August 19, 2021

Application Brief: No-Amp targeted sequencing – Best Practices

With the PacBio no-amplification (No-Amp) targeted sequencing method, you can now sequence through previously inaccessible regions of the genome to provide base-level resolution of disease-causing repeat expansions. By combining the CRISPR-Cas9 enrichment method with Single Molecule, Real-Time (SMRT) Sequencing on the Sequel Systems you are no longer limited by hard-to-amplify targets.

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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

The Evolution and Function of a Large Tandem Repeat Associated with ALS

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 with sporadic ALS cases, suggesting that it plays a role in disease susceptibility. Long-read sequencing reveals remarkable internal nucleotide variation, which was harnessed to determine the evolutionary origin of the expansion, its mechanism of replication, and its current state in modern-day humans. Each copy of the repeat has been determined to be able to form microRNAs and aggregate in cells and may sequester ALS-related RNA-binding proteins.

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Tuesday, June 15, 2021

Improving the Prognosis and Genetic Counseling in DM1 Patients

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 clinical and genetic variability in DM1 patients, sequencing several DM1 patients with CTG repeat expansion ranging from 130 to > 1000 CTG repeats on the Sequel I and II Systems from amplicons. She obtained more than 77% full DM1 reads per sample, with >70% of the reads from expanded alleles. The data includes long reads in the expected size range for all samples, including DM1 patients with more than 1000…

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PacBio Grants Equity Incentive Award to New Employee

Friday, November 19, 2021

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