Blog
This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Blog
With Highly Accurate Variant Calling and Phasing, SMRT Sequencing Advances PGx Studies of SLC6A4
Scientists at Stanford University and the Icahn School of Medicine at Mount Sinai have made impressive strides in resolving variants in the SLC6A4 promoter associated with susceptibility to psychiatric disorders…
SMRT Sequencing Offers a Universal Approach for Thalassemia Carrier Testing
Scientists in China have used SMRT Sequencing to demonstrate the value of highly accurate long reads for identifying, linking, and phasing variants associated with a group of blood disorders known…
Sequencing 101: ploidy, haplotypes, and phasing — how to get more from your sequencing data
Geneticists often point out that a human does not have “a” genome but rather two genomes: one inherited from the mother and another from the father. The number of…
Better Apple Pies: HiFi Reads are a Perfect Recipe for High-Quality Apple Genome and Pangenome Assemblies
Scientists at the Boyce Thompson Institute, Cornell University and the USDA Agricultural Research Service have reported significant progress in understanding the genomic features of domestic and wild apples. They used HiFi reads, highly accurate long…
Scientists Pinpoint Pathogenic Inversion in Intellectual Disability Case Using HiFi Sequencing
Scientists at Yokohama City University Graduate School of Medicine and Osaka Women’s and Children’s Hospital have discovered a novel pathogenic variant associated with intellectual disability. They made the discovery using…
Secrets to Longevity Explored in de novo Genome of 115-Year-Old Woman
A new publication from scientists in The Netherlands and Belgium offers tantalizing insights that may shed light on age-related neurodegenerative disorders. The team used SMRT Sequencing to produce a de…
Breast Cancer Research Legend Mary-Claire King Identifies New Pathogenic Mutation with HiFi Sequencing
It’s Breast Cancer Awareness Month, and we can’t think of a better way to celebrate than to honor the passionate scientist who has perhaps single-handedly done more to advance breast…
Egyptian genome added to growing list of population-specific reference genomes
We’re excited to report that another team has used PacBio long-read sequencing to produce a population-specific reference genome — this time an Egyptian genome that should prove valuable for boosting…
PacBio and Invitae Team Up to Develop Whole Genome Sequencing-Based Assays for Pediatric Epilepsy Diagnostics
We’re excited to announce a research collaboration with Invitae focused on the investigation of clinically relevant molecular targets for use in the development of advanced diagnostic testing for epilepsy. To…
The HiFi Sequencing Advantage for Metagenome Assembly
Assembly and binning of metagenome data are the first steps in many metagenomics analysis pipelines, and with good reason. Metagenome assembled genomes (MAGs) and circularized MAGs (CMAGs) allow recovery of…
Pediatric Partnership Powered by PacBio Aims to Solve Difficult Rare Disease Cases
Kids have lots of questions. But even the world’s top scientists don’t have all the answers — especially when it comes to rare genetic disorders afflicting children. Our HiFi reads,…
A Living Legacy of Microbiology Celebrates 100 Years
As the world faces an unprecedented pandemic caused by a novel coronavirus, the scientific spotlight has shone brightly on infectious disease research. And although interest in Public Health England’s (PHE)…
Meet the New Sequel IIe System: Delivering Fast & Affordable HiFi Sequencing
Still soaring from the success of last year’s launch of the award-winning Sequel II System, we’re excited to announce the next evolution of the instrument: the Sequel IIe System. This…
Webinar: Crops and Corvids get the Pangenome Treatment with HiFi Sequencing
Nearly gapless, reference-quality chromosome-level assemblies — in less than a day? Yes, it’s possible, thanks to the high accuracy and low computational needs of PacBio HiFi reads. Kevin Fengler, computational…
Checkmate, Chromosome 8: The First End-to-End Sequence of a Human Autosome
UPDATE: The paper is now available in Nature. Even in the field of genomics where new breakthroughs occur every few months, completion of the first-ever fully sequenced human autosome is…