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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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Raising Awareness for Ataxia & Progress Toward Understanding of the Disease Mechanism

Today is International Ataxia Awareness Day (IAAD), and we’re proud to be participating in this worthy cause. Ataxia is a group of rare, degenerative neurological diseases with a number of…

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Data and Software Release: Target Capture and SMRT Sequencing for Alzheimer’s Disease Genes

We’re pleased to release a new data set along with an allele phasing GitHub software workflow for those interested in exploring SMRT Sequencing data from an Alzheimer’s disease candidate gene…

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New Diploid Avian Reference Genomes to Establish Quality Standards for G10K, B10K

A new publication from scientists at The Rockefeller University and PacBio presents reference-grade, phased diploid genome assemblies for two important avian models for vocal learning, Anna’s hummingbird and zebra finch….

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New Insights in Soil Ecology: SMRT Sequencing Powers Genome Assembly of Parthenogenetic Arthropod

In a recent BMC Genomics paper, scientists in the Netherlands report a high-quality genome assembly for Folsomia candida, a soil-dwelling arthropod. The organism, which is known for reproducing parthenogenetically (and…

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At PMLS Meeting, a Focus on Boosting Genomic Representation of Ethnic Diversity

A panel session at the recent Precision Medicine Leaders Summit, held in San Diego last month, offered great perspectives on the need to better represent global ethnic diversity in order…

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CRISPR/Cas9 and SMRT Sequencing Yield New Phenotype Association for SCA10 Repeat Expansion Disorder

A compelling new paper from scientists at the Parkinson’s Institute and Clinical Center, Houston Methodist Research Institute, and several other organizations demonstrates the importance of fully sequencing repeat expansion regions…

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Medical-Grade Psychotropic May Be Feasible Thanks to New Genomics Study

A recent paper in the journal Angewandte Chemie describes using SMRT Sequencing to characterize biosynthesis of a psychotropic product in Psilocybe carpophores, better known as magic mushrooms. Scientists from the Hans…

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Sequel System Data Release: Iso-Seq Results for Hummingbird and Zebra Finch Brain Tissue

If you’re interested in avian vocal learning or want to explore a PacBio Iso-Seq data set generated with the Sequel System, we have good news. We’ve just released data from…

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With Iso-Seq Study, Scientists Reveal Complexity of Rabbit Transcriptome

A new paper in Scientific Reports presents results from a transcriptome analysis for Oryctolagus cuniculus. The work was done with SMRT Sequencing, which allowed scientists to discover novel transcripts and…

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Software Tools Optimized for Long Reads Improve Detection of Complex Structural Variants

[Update April 30, 2018: This paper is now published in Nature Methods.] Sniffles and NGMLR, structural variant detection and alignment algorithms developed in the Schatz lab for long-read sequence data,…

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In Bake-Off, SMRT Sequencing Generates Highest-Quality, Cost-Effective Bacterial Assembly

Scientists from the University of Hong Kong recently reported results of a head-to-head comparison of long-read and short-read platforms for sequencing and assembly of a bacterial genome. They determined that…

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Iso-Seq Analysis Reveals Differential Expression in Male and Female Abalones

Earlier this year, scientists from Korea reported results from a transcriptome study of Pacific abalone. In this paper, the team used SMRT Sequencing to demonstrate that alternative splicing and gene…

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SMRT Sequencing Shines at ISAG: First Sequel System Bovine Genome Presented

If you weren’t at the 36th International Society for Animal Genetics Conference in Dublin, you missed more than a chance to drink Guinness and practice an Irish brogue. The PacBio…

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At Baltimore UGM, New Tools and Research Breakthroughs with SMRT Sequencing

We were delighted to be back at the University of Maryland this summer for our annual East Coast User Group Meeting. The day-long event, preceded by half-day workshops on sample…

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To Resolve KIR Region, Scientists Pair SMRT Sequencing with Fosmid Cloning

A paper from scientists at the National Marrow Donor Program, Center for International Blood and Marrow Transplant Research, Fred Hutchinson Cancer Research Center, and other institutions reports the use of…

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