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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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With chromosome-scale resolution, draft durian genome explains smelly fruit

Scientists in Singapore, Hong Kong, and Malaysia recently reported the high-quality draft genome assembly of Durio zibethinus, a type of durian fruit commonly eaten in southeast Asia. The team used…

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Iso-Seq analysis of polyploid cotton yields important discoveries for fiber breeding

Scientists at Huazhong Agricultural University in China and collaborating institutions recently published results of an Iso-Seq analysis of allotetraploid cotton. The team’s findings are expected to be particularly useful for…

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ASHG 2017 Day 4: CRISPR/Cas9 Targeting and Structural Variant Calling CoLabs

A new program at ASHG this year came from the CoLaboratories, or educational theaters featuring 30-minute talks on a variety of clinical, laboratory, and data analysis topics. We were honored…

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ASHG Day 2: Population and clinical genetics, plus a SMRT sequencing roadmap

The PacBio team hosted a luncheon workshop at ASHG yesterday titled “Population and Clinical Genetics Studies Using Long-read SMRT Sequencing.” Thanks to all the conference attendees who took time out…

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ASHG 2017 Day 1: Structural variation, reference genomes, and more diversity

The annual meeting of the American Society of Human Genetics kicked off with a splash yesterday in Orlando, Fla. The PacBio team was thrilled that the opening talks in the…

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HGSV Consortium study identifies sevenfold increase in structural variation

UPDATE (April 16, 2019): The paper has now been published in Nature Communications. ORIGINAL POST (October 12, 2017): The Human Genome Structural Variation Consortium, a successor to the 1000 Genomes…

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Automated de novo assembly pipeline now available in Bluebee Cloud platform

Good news for cloud-loving PacBio users: genomics analysis service Bluebee has now implemented HGAP4 for de novo assembly of SMRT Sequencing data. It creates a fully automated, end-to-end assembly pipeline…

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Sequel system boosts coverage, provides 40-fold cost reduction for amplicon sequencing

UPDATED March 27, 2018 This paper is now available at BMC Genomics. ORIGINAL POST October 5, 2017 A new preprint from scientists at the University of Guelph in Canada and the…

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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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