This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Until recently, enriching for certain regions of the genome has been virtually impossible. Repeat expansions, extreme GC regions, and other genomic elements are very difficult to target using traditional enrichment…
Patients with myotonic dystrophy type 1 (DM1) want to know their size — the size of the expansion of repeats of the unstable CTG sequences that cause the progressive deterioration…
The annual meeting of the European Society of Human Genetics — held last month in the sleek Swedish Exhibition & Congress Center in Gothenburg, Sweden — was a terrific assembly…
UPDATE: The article is now published in the Annals of Human Genetics. A new preprint evaluates the utility of PacBio HiFi reads for assembly of a human genome. The…
To enable better understanding of biology, sequencing data must be accurate and complete. This is especially true when seeking out variants and determining their implications. Luckily, technical and software improvements…
Variety is the spice of life, and one of the drivers of genetic variation is gene splicing. After a gene is transcribed, there are alternatively spliced transcripts that add even…
A new publication released in PLOS One from scientists at the Mayo Clinic offers a great look at our CRISPR/Cas9-based, amplification-free targeted sequencing method and its utility for accurately sizing…
As we geared up for the launch of our new Sequel II System, we had the good fortune of working closely with several expert customers in an early access program….
UPDATE: The paper has been published in Nature Biotechnology A preprint released this week from the Genome in a Bottle (GIAB) Consortium describes a benchmark set of structural variants (SVs),…
A recent review article published in Frontiers in Genetics offers a great look at the landscape of long-read sequencing. Authors Tuomo Mantere, Simone Kersten, and Alexander Hoischen from Radboud University…
What can a cute, cuddly, stingless bee from the Brazilian rainforest teach us about eusociality and mitochondrial evolution? Natalia S Araujo wants to find out, and she’s not the only…
This month’s meeting of the American Association for Cancer Research (AACR) in Atlanta was a great showcase of the latest academic and translational research in this field. Years ago, the…
by Jonas Korlach, CSO It’s been really exciting to see a spate of publications coming out that demonstrate the utility of SMRT Sequencing for determining the underlying genetic cause of…
We’re seeing real progress in efforts to better characterize genomic population diversity. That’s particularly good news in light of mounting concerns about the implications of having genomic databases that over-represent…
The PacBio team was honored to have the opportunity to give several talks at this year’s Advances in Genome Biology & Technology conference. If you weren’t able to be there,…
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