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This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.

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SMRT Sequencing to Help Reveal Secrets of the Soil in Understudied South-East Asian Rainforests

The most important creatures in a tropical rainforest aren’t necessarily the ones you can see. They work their magic underground, recycling organic matter and processing and transporting vital nutrients for…

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Webinar Summary: Need accurate isoform-level characterization? Iso-Seq is the answer

Traditional RNA-Seq is done by fragmenting cDNA, and then sequencing the fragmented reads with paired-end sequencing. The problem comes when trying to identify the full-length isoform during assembly. This is…

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At ASHG Workshop, Customers Describe Long-Read Sequencing of Human Genomes for Disease Gene Discovery and Population Studies

We were delighted to host an educational workshop at last month’s annual meeting of the American Society of Human Genetics (ASHG), where we had the opportunity to feature talks from…

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Mapping the NLRome: Research Teams Turn to SMRT Sequencing to Trace Plant Immunity

There’s the genome, the transcriptome, the microbiome… and now the NLRome? Breeders and pathologists have long been interested in uncovering the secrets of plant immunity, and much of their attention…

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Double Mutations in Oncogene May Improve Patient Response to Targeted Therapy

The PIK3CA oncogene has been the target of intense research scrutiny for decades. Remarkably, though, a new paper in Science today reports completely novel findings about compound mutations that are…

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ASHG 2019: CoLab Session Highlights Structural Variation and Transcriptome Sequencing

At the annual meeting of the American Society of Human Genetics in Houston, PacBio scientists presented how our Sequel II System performs for structural variant (SV) detection and for whole…

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Adaptive Selection of CNVs: UW Team Applies SMRT Sequencing to the Melanesian Genome

In a new Science publication, researchers from the University of Washington and other institutions report detailed analyses revealing the adaptive importance of copy number variants (CNVs) acquired from Denisovan and…

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In New Tibetan Genome Assembly, Variants for Living at Altitude and the Imprint of Archaic DNA

A recent bioRxiv preprint reports efforts to sequence the genome of a Tibetan individual and detect the genetic underpinning of adaptive traits associated with tolerating high altitude. The authors used…

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Review: Long-Read Sequencing Helps Uncover Genetic Basis for Rare Disease

A new review article nicely sums up the utility of long-read sequencing for solving rare diseases that cannot be explained by other methods. The paper, published in the Journal of…

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Keeping a Close Eye on MRSA: Lessons Learned from PacBio Sequencing Surveillance

When MRSA hits your hospital, what do you do? If you’re located in Europe or other places where infection rates are still relatively low, you can take a seek-and-destroy approach,…

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In Memoriam: Jo Messing, Developer of Shotgun Sequencing

The DNA sequencing community lost one of its founding fathers last month with the death of Jo Messing, director of the Waksman Institute at Rutgers University. Dr. Messing, who died…

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When Complete Isn’t Complete: C. Elegans Genome Gets a Makeover

It was the first multicellular eukaryotic genome sequenced to apparent completion, but it turns out the Caenorhabditis elegans reference that’s been used as a resource for the past 20 years…

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New NHGRI Human Pangenome Reference Initiative Will Use Highly Accurate PacBio Sequencing

The National Human Genome Research Institute has awarded nearly $30 million for new sequencing and bioinformatics initiatives that aim to better represent the full range of human genetic diversity. An…

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Sequencing at the Extremes: Low DNA Input Workflow Enables Study of Tiny Ice Worm with Giant Genome

It was the coolest critter Erin Bernberg (@ErinBernberg) had ever worked with – quite literally. The senior scientist at the University of Delaware Sequencing and Genotyping Center, a PacBio certified…

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SOLVE-RD Team Adopts PacBio Sequel II System to Solve Rare Diseases

Great news from the rare disease community: the European research program SOLVE-RD has chosen SMRT Sequencing technology to help reveal the genetic mechanisms responsible for these tough-to-diagnose genetic diseases. As…

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