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Thursday, May 12, 2016

From Seabass to Salmon:
Swimming in High-Quality Genomes

[caption id="attachment_12027" align="alignright" width="300"] Asian seabass[/caption] A global collaboration of researchers has produced what is likely the most contiguous assembly of a fish genome to date. “Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding,” published in PLoS Genetics, comes from lead author Shubha Vij and senior author László Orbán with collaborators at nearly two dozen labs. The team set out to sequence Lates calcarifer, the Asian seabass, which has a genome of about 670 Mb grouped into 24 A chromosomes and as many as 10 B chromosomes. They used SMRT Sequencing from PacBio to overcome…

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Wednesday, April 13, 2016

Genome and Transcriptome Analysis Help Scientists Deconstruct Cancer Complexity

At Cold Spring Harbor Laboratory, scientists used SMRT® Sequencing to decode one of the most challenging cancer genomes ever encountered. Along the way, they built a portfolio of open-access analysis tools that will help researchers everywhere make structural variation discoveries with long-read sequencing data. When Mike Schatz realized a few years ago that his PacBio® System had reached the throughput needed to process human genomes, he decided to give it a real challenge: the incredibly complicated, massively rearranged SK-BR-3 breast cancer cell line. The genome consists of 80 chromosomes, and that’s just the tip of the complexity iceberg. “We were…

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Thursday, March 31, 2016

With Greater Contiguity, New Gorilla Genome Assembly Offers Insights into Gene Content, SVs, and More

In a Science paper published today, scientists from the University of Washington, the McDonnell Genome Institute, and other organizations present a new gorilla genome assembly generated with PacBio long-read sequencing, representing an over 150-fold improvement over previous assemblies. From lead authors David Gordon, John Huddleston, Mark Chaisson, and Christopher Hill, and senior author Evan Eichler, the paper reports that the new assembly recovers nearly all reference exons missing from the previous assembly, and provides an unprecedented look at structural variation, genetic diversity, ancestral evolution, repeat structures, and more. The project was launched to address shortcomings with the existing gorilla assembly,…

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Monday, February 22, 2016

AGBT Day 4: A Better Gorilla Assembly, and Data from the Sequel System

On the final day of AGBT, attendees strapped in for the last talks of the conference before the ’80s-themed dance party to close out the meeting. Two of those talks focused on SMRT Sequencing, one including new data from our Sequel System. Christopher Hill from the Eichler lab at the University of Washington gave a fascinating talk on creating reference-grade assemblies for the great ape species. These resources will be incredibly helpful for shedding light on biological mechanisms behind speech, disease, neurological behavior, and other traits that separate us from our closest primate relatives. Current assemblies for these apes — including bonobo,…

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Tuesday, October 20, 2015

Scientists Reveal Recent Autosome-to-Y Duplication Event in Drosophila

Following on the heels of characterizing 18 Mst77Y genes that were tandemly duplicated within a 96 kb region (Krsticevic FJ, et al., 2015), scientists from institutes in Brazil, Austria, and the United States recently published a study in which they also used the Drosophila melanogaster data release from PacBio to characterize a region of the Y chromosome that had never before been accessible. In a paper published in PNAS, entitled “Birth of a new gene on the Y chromosome of Drosophila melanogaster,” lead author Antonio Bernardo Carvalho, senior author Andrew Clark, and collaborators detail their find of a gene duplicated from…

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Thursday, October 15, 2015

ASHG 2015: Highlights from the Platinum Genome Session and More

During the final days of the ASHG meeting last week in Baltimore, a number of scientists offered great presentations based on data generated with SMRT Sequencing, including an entire session on building platinum genomes. We’ve rounded up the highlights here: Karyn Meltz Steinberg from Washington University’s McDonnell Genome Institute spoke about building a platinum human assembly from single-haplotype genomes. Her team defines “platinum” as covering at least 98% of the sequence with every contig associated with a chromosome. They use long-read PacBio sequencing for de novo sequencing and assembly, followed by scaffolding with BioNano Genomics or Dovetail Genomics technology. When…

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Thursday, August 20, 2015

The Gapless Assembly: Scientists Describe Workflow for Producing Complete Eukaryote Genome

Sunflowers with verticillium wilt caused by V. dahliaeIn a new mBio publication, scientists from Wageningen University and KeyGene in The Netherlands report results from several strategies used to assemble the genome of a filamentous fungus, and describe the specific pipeline they recommend for sequencing and assembling eukaryotic genomes.“Single-Molecule Real-Time Sequencing Combined with Optical Mapping Yields Completely Finished Fungal Genome” comes from lead authors Luigi Faino and Michael Seidl, senior author Bart Thomma, and collaborators. Using Verticillium dahliae as a model, which is a plant pathogen responsible for the damaging verticillium wilt disease in many crop species, they compared short-read and…

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Thursday, July 9, 2015

The Festival of Genomics Review: A Celebration of Long Reads

At the inaugural Festival of Genomics event in Boston, more than 1,500 people turned out to see what was billed as a conference unlike any other. The meeting was indeed unique, featuring a play (starring well-known scientists), a giant chess board, and a Genome Dome, in addition to the more familiar lineup of excellent speakers and workshops. To help kick off the festival, genomic luminaries Craig Venter and James Lupski presented plenary talks on day 1 and set the stage for some exciting science to follow. Lupski’s talk was particularly impactful, as he described how his team at Baylor recently…

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Monday, June 29, 2015

Nature Methods Paper Uses Long-Read Data for Highly Contiguous Diploid Human Genome

A new publication in Nature Methods describes a new single-molecule assembly approach that resulted in “the most contiguous clone-free human genome assembly to date,” according to lead authors Matthew Pendleton, Robert Sebra, Andy Pang, and Ajay Ummat. The paper, “Assembly and Diploid Architecture of an Individual Human Genome via Single Molecule Technologies,” comes from a large team of collaborators at the Icahn School of Medicine at Mount Sinai, Cornell, Cold Spring Harbor Laboratory, and other institutions. Their new approach leverages the best aspects of each single-molecule data type by combining long-read sequencing for de novo assembly with single-molecule genome maps…

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Tuesday, June 9, 2015

Attend Our Worldwide User Meetings & SMRT Informatics Developers Conference

If you’d like to hear about the latest applications of SMRT® Sequencing from users, we have several events coming up. Our worldwide user group meetings and workshops feature PacBio users sharing their latest research, tips, and protocols, as well as our staff providing training and updates on products and methods to optimize your research. We’re always humbled by the quality and variety of science presented at these meetings. And for the bioinformatics crowd, we have a new event in August focused on developing new analytical tools for PacBio® data. Here’s more detail on each event, including registration details: Americas East…

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Tuesday, June 2, 2015

In Assembler Evaluation, Scientists Recommend Non-hybrid Approach to Bacterial Genomes

A new publication in Nature Scientific Reports recommends using only the PacBio® system to sequence bacterial genomes for the best chance of generating an accurate and finished assembly. The paper, “Completing bacterial genome assemblies: strategy and performance comparisons,” reviews several different long-read assembly methods for bacterial genomes. Authors Yu-Chieh Liao, Shu-Hung Lin, and Hsin-Hung Lin from the Institute of Population Health Sciences in Taiwan note that while several methods exist, efforts to evaluate and compare them have been insufficient. They set out to thoroughly assess these methods, which include hybrid assembly protocols as well as long-read-only protocols. Long-read technology appealed…

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Tuesday, May 26, 2015

New MHAP Algorithm Delivers Fast, High-Quality Genome Assemblies

A new publication in Nature Biotechnology reports the development of a lightning-fast genome assembly pipeline optimized for long reads. Scientists from the University of Maryland and the National Biodefense Analysis and Countermeasures Center created the MinHash Alignment Process, known as MHAP, to dramatically reduce assembly time and improve assembly quality. Their results are worth celebrating: assembly times were 600-fold faster compared to existing methods. “Using MHAP and the Celera Assembler, single-molecule sequencing can produce de novo near-complete eukaryotic assemblies that are 99.99% accurate when compared with available reference genomes,” the authors write. In the best cases, entire chromosome arms assembled…

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Thursday, April 30, 2015

In Study, Continuous Long Reads Outperform Synthetic Long Reads for Resolving Tandem Repeats

Scientists from Argentina and Brazil published the results of a study comparing long-read approaches to characterize the genome structure of a highly complex region of the Y chromosome in Drosophila melanogaster. They found that Single Molecule, Real-Time (SMRT®) Sequencing outperformed synthetic long reads in accurately representing tandem repeats. The study aimed to resolve the structure of the autosomal gene Mst77F, which had previously been found to have multiple tandem copies; the region, however, was known to be grossly misassembled in the reference. The scientists, from Centro Internacional Franco Argentino de Ciencias de la Información y de Sistemas and Universidade Federal…

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Tuesday, March 3, 2015

AGBT Highlights, Day Three: Genomic Medicine, Population Specific Genomes, Goats & Influenza

Day 3 of the AGBT conference was packed with interesting talks - we've covered a few highlights below.  Admittedly, it took a little more caffeine than usual to power through the day..... In the clinical session, Euan Ashley from Stanford told attendees that genomic medicine is no longer something that we’re aiming for; it’s already here and being used routinely. He expressed concerns about accurate mapping of short-read sequence data for clinical utility, adding that the community needs to make progress in understanding complex genomic regions. Ashley noted that we still don’t have a gold-quality human genome with every single…

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Thursday, February 26, 2015

AGBT Highlights, Day One: Advancing Human Reference Assembly & Sequencing in the Clinic

It is great to be here in Marco Island for the AGBT meeting! The 16th annual meeting hit the ground running with a pre-meeting workshop hosted by the Genome Reference Consortium (GRC) followed by an opening session that was more clinically focused than many attendees are used to at this tech-heavy conference. From the dynamic Q&A sessions, it was clear that these were precisely the kind of talks that people have been looking for as this meeting evolves downstream along with genomic science. The GRC workshop, entitled ‘Advancing the Human Reference Assembly’ included four speakers: Valerie Schneider (NCBI), Tina Graves-Lindsay…

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