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…
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…
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…
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…
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…
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…
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…
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….
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…
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…
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…
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…
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…
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…
[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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