Blog
October 18, 2019
Adaptive Selection of CNVs: UW Team Applies SMRT Sequencing to the Melanesian Genome
In a new Science publication, researchers from the University of Washington and other institutions report detailed analyses revealing the adaptive importance of copy number variants (CNVs) acquired from Denisovan and…
October 14, 2019
In New Tibetan Genome Assembly, Variants for Living at Altitude and the Imprint of Archaic DNA
A recent bioRxiv preprint reports efforts to sequence the genome of a Tibetan individual and detect the genetic underpinning of adaptive traits associated with tolerating high altitude. The authors used…
October 10, 2019
Review: Long-Read Sequencing Helps Uncover Genetic Basis for Rare Disease
A new review article nicely sums up the utility of long-read sequencing for solving rare diseases that cannot be explained by other methods. The paper, published in the Journal of…
October 7, 2019
Keeping a Close Eye on MRSA: Lessons Learned from PacBio Sequencing Surveillance
When MRSA hits your hospital, what do you do? If you’re located in Europe or other places where infection rates are still relatively low, you can take a seek-and-destroy approach,…
October 4, 2019
In Memoriam: Jo Messing, Developer of Shotgun Sequencing
The DNA sequencing community lost one of its founding fathers last month with the death of Jo Messing, director of the Waksman Institute at Rutgers University. Dr. Messing, who died…
October 2, 2019
When Complete Isn’t Complete: C. Elegans Genome Gets a Makeover
It was the first multicellular eukaryotic genome sequenced to apparent completion, but it turns out the Caenorhabditis elegans reference that’s been used as a resource for the past 20 years…
September 26, 2019
New NHGRI Human Pangenome Reference Initiative Will Use Highly Accurate PacBio Sequencing
The National Human Genome Research Institute has awarded nearly $30 million for new sequencing and bioinformatics initiatives that aim to better represent the full range of human genetic diversity. An…
September 20, 2019
Sequencing at the Extremes: Low DNA Input Workflow Enables Study of Tiny Ice Worm with Giant Genome
It was the coolest critter Erin Bernberg (@ErinBernberg) had ever worked with – quite literally. The senior scientist at the University of Delaware Sequencing and Genotyping Center, a PacBio certified…
September 5, 2019
SOLVE-RD Team Adopts PacBio Sequel II System to Solve Rare Diseases
Great news from the rare disease community: the European research program SOLVE-RD has chosen SMRT Sequencing technology to help reveal the genetic mechanisms responsible for these tough-to-diagnose genetic diseases. As…
September 4, 2019
Webinar: No-Amp Targeted Sequencing Yields Base-Level Resolution of Hard-to-Amplify Regions
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…
August 30, 2019
From Parakeet to Potoo, International Consortium Releases 100 High-Quality Vertebrate Genomes
UPDATE (October 2020): A preprint of the vaquita reference genome has been published. With her distinctive dark eyeshadow, grey lipstick-like markings and delicate disposition, she was a natural film star….
August 21, 2019
New Initiative to Generate 5,000 High-Quality Microbial Genomes for Chinese Database
An ambitious project to sequence 5,000 microbial genomes was jointly initiated by a consortium of 10 institutions across China, including Nankai University, China CDC, Academy of Military Medical Science, Third Institute…
August 19, 2019
When Size Matters: Using SMRT Sequencing to Help Patients With Repeat Expansion Disorders
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…
August 15, 2019
At ESHG, SMRT Sequencing Contributed to De Novo Assemblies, Structural Variant Discovery
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…
August 12, 2019
PacBio HiFi Reads: ‘Most Effective Stand-Alone Technology for de Novo 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…