Blog
This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Blog
Disease-Causing LINE-1 Insertions: Rare or Just Hard to Spot?
LINE-1 (long interspersed nuclear element) insertions cover almost 17% of the human genome, but they are notoriously difficult to resolve accurately with short-read sequencing technology, according to scientists in Portugal….
Codfish Study Employs Target Capture and SMRT Sequencing to Explore Evolution
Many investigators rely on targeted sequencing approaches for deep dives into genomic regions of interest. By designing specific probes — often using short-read sequences directed towards the exome and supported…
Introduction of the Iso-Seq method: state of the art for full-length transcriptome sequencing
In eukaryotic organisms, the majority of genes are alternatively spliced to produce multiple transcript isoforms. Gene regulation through alternative splicing can dramatically increase the protein-coding potential of a genome. Therefore,…
An Interview with Baylor’s Fritz Sedlazeck on New Long-Read Algorithms
Nature Methods just published “Accurate detection of complex structural variations using single-molecule sequencing,” a publication that presents the NGMLR aligner and Sniffles structural variant caller, both designed for use with…
AACR 2018 Recap: Iso-Seq Method Meets Cancer Research
The PacBio team is just back from Chicago, where we saw outstanding talks and posters at the American Association for Cancer Research (AACR) Annual Meeting and enjoyed that city’s well-deserved…
Nature Webinar and SMRT Grant Winner Explore Structural Variation for Disease Gene Discovery
Structural variants account for most of the base pairs that differ between human genomes, and are known to cause more than 1,000 genetic disorders, including ALS, schizophrenia, and hereditary cancer….
Scientists Aim to Develop “Genomic Ark” of High-Quality Bat Genomes
Pop quiz: Which animal accounts for around 20% of all living mammals, harbors (yet survives) some of the world’s deadliest diseases, lives proportionately longer than humans given its body size,…
SMRT Sequencing Enables Characterization of Cavities-Causing Bacteria in Children
We’re told to avoid sugar and refined carbohydrates if we want our teeth to remain strong and cavity-free. But what is the role of microbiota in our oral health? Cavities…
HudsonAlpha Chooses Sequel System for NIH-Funded Program Focused on Challenging Pediatric Cases
At the HudsonAlpha Institute for Biotechnology, scientists are building on advances in agricultural research to power a clinical pediatric research program. For this work, they’re using the Sequel System to…
Rice Revelations: Nine New Genome Assemblies Uncover Key Traits and Evolutionary Clues
Revered around the world, rice is a staple food for nearly half of the population. But as that population grows, rice breeders are faced with the challenge of producing crops…
New M. Oryzae Assembly Reveals Importance of Previously Missed Transposable Elements
A publication from the Molecular Plant journal demonstrates the use of SMRT Sequencing to characterize activity of transposable elements in Magnaporthe oryzae, the destructive fungus responsible for rice blast disease….
Disease-Causing Mobile Element Identified with SMRT Sequencing, Validated with CRISPR
In an exciting new Cell paper, scientists report identification of an intronic structural variant that causes a neurodegenerative Mendelian disorder that primarily affects people on the island of Panay in…
Bio-IT World: Genomic Data Standards Are a ‘Necessity’
Genomic data standards will be essential for continuing the growth of genomics and ensuring its smooth transition into the clinic, according to a new Bio-IT World article written by PacBio…
New cattle genome overcomes challenges of haplotype assembly
Genetic knowledge is powerful when it comes to breeding. The ability to trace desirable traits to the gene level can help create plants and animals that are adapted to existing…
New High-Quality Swedish Genome Assemblies Identify Novel Population-Specific Reference Sequence
UPDATE: This paper has now been published in Genes. A new preprint from scientists at Uppsala University’s SciLifeLab reports the de novo genome sequencing and assembly of two Swedish individuals…