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Thursday, August 27, 2020

Case Study: Assembling high-quality human genomes – Beyond the ‘$1,000 genome’

Scientists from WashU, Macrogen, and Mount Sinai are using long-read sequencing with single-molecule, next-generation genome mapping to create gold-quality de novo assemblies of human genomes. Unbiased de novo assembled genomes also highlight the substantial amount of structural variation unique to individuals and populations, which cannot be accessed by short-read technologies that use a reference-based re-sequencing approach.

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Thursday, August 27, 2020

Application Note: Targeted sequencing and chromosomal haplotype assembly using Cergentis TLA technology with SMRT Sequencing

The Targeted Locus Amplification (TLA) Technology from Cergentis enables the targeted, hypothesis-neutral, amplification of any genomic locus of interest over 50 kb using just one primer pair complementary to a short locus-specific sequence. TLA is a strategy to selectively amplify complete loci on the basis of crosslinking physically proximal sequences. Unlike other targeted sequencing methods, TLA works without prior detailed locus information, as one primer pair is sufficient to amplify tens to hundreds of kilobases of DNA surrounding that locus. In a separate application of TLA, the unamplified template can be used for genome-wide phasing and assembly. TLA enables targeted…

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Thursday, August 27, 2020

Case Study: Improving precision medicine studies in Asia using ethnicity-specific human reference genomes and PacBio long-read sequencing

Several new high-quality human genome assemblies produce ethnicity-specific reference sequences and show how scientists can use this genetic information to improve precision medicine studies in Asian sub- populations. These projects demonstrate how long- read SMRT Sequencing provides robust detection of polymorphic structural variants in clinically relevant gene coding regions and phases variants into haplotypes.

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Thursday, August 27, 2020

Human Biomedical Research Brochure: The most comprehensive view of the human genome

To understand the genetic factors underlying health and disease and to address hidden heritability, scientists require a more comprehensive view of all the variations in the human genome. Single Molecule, Real-Time (SMRT) Sequencing delivers the read lengths, uniform coverage, and accuracy needed for accessing the complete size spectrum of sequence variant types — from single nucleotides to complex structural variants. PacBio’s long single-molecule reads also provide direct variant phasing information across full-length genes and chromosome haplotype blocks. With SMRT Sequencing, scientists gain new insight into the genetic basis of health and disease.

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Thursday, August 27, 2020

Whitepaper: Structural variation in the human genome

Structural variation accounts for much of the variation among human genomes. Structural variants of all types are known to cause Mendelian disease and contribute to complex disease. Learn how long-read sequencing is enabling detection of the full spectrum of structural variants to advance the study of human disease, evolution and genetic diversity.

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Thursday, August 27, 2020

Product Note: Fast, high-resolution DNA sizing with the fragment analyzer system

The Agilent 5200, 5300, and 5400 Fragment Analyzer instruments are fast, high-resolution benchtop capillary electrophoresis (CE) platforms that utilize proprietary markers to accurately size fragments ranging from 10 to 50 kb. This platform allows important DNA quality checkpoints to be completed in one hour for de novo large-genome sequencing projects and other PacBio applications leveraging multi-kilobase read lengths. The instrument can be used in place of time-consuming QC steps involving pulsed field gel electrophoresis (PFGE), saving time by avoiding multiple overnight gel runs when preparing large-insert SMRTbell libraries. Alternative DNA-sizing instruments cannot accurately resolve large DNA fragments in this range.

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Thursday, August 27, 2020

SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data

The PacBio Platform includes an extensive software portfolio that employs key advantages of SMRT (Single Molecule, Real-Time) Sequencing technology: extraordinarily long reads, highest consensus accuracy, uniform coverage and simultaneous epigenetic characterization. Core elements of our analytical portfolio include SMRT Analysis software, DevNet and SMRT Compatible products.

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Thursday, August 27, 2020

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

With highly accurate long reads (HiFi reads) from the Sequel II System, powered by Single Molecule, Real-Time (SMRT) Sequencing technology, you can comprehensively detect variants in a human genome. 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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