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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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Investigating splicing of transcripts in cancer cells: SMRT Grant winner announced

We’re pleased to announce the winner of this year’s ‘Open Your Eyes to Isoform Diversity’ SMRT Grant, which was launched during the American Association for Cancer Research annual meeting. The…

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Fungal genome study sheds light on pathogenicity in plants

They are colonizers and killers, growing as large as 2,400 acres, leaving devastation in their wake. Armillaria fungi are the cause of root rot disease in forests, fields, parks, and vineyards…

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Medicinal plants: Investigating biosynthesis with SMRT sequencing

Three recent publications report results from transcriptome studies of plants often used for medicinal purposes, all powered by SMRT Sequencing and the Iso-Seq method. The papers on ginseng, Huangqi, and…

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Sanger celebrates 25 Years by generating 25 high-quality genomes of UK species

We’re pleased to be teaming up with the Wellcome Trust Sanger Institute on a project to celebrate their twenty-fifth anniversary: generating high-quality genome assemblies for 25 species that are integral…

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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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