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Thursday, October 12, 2017

HGSV Consortium Study Identifies Sevenfold Increase in Structural Variation

The Human Genome Structural Variation Consortium, a successor to the 1000 Genomes Project Consortium, recently released a preprint describing an in-depth study of structural variant (SV) detection in human genomes. The scientists found that PacBio long-read sequencing and complementary technologies dramatically improve sensitivity for these important genomic elements when compared to standard short-read sequencing. “Multi-platform discovery of haplotype-resolved structural variation in human genomes” comes from lead authors Mark Chaisson, Ashley Sanders, and Xuefang Zhao; along with corresponding authors Charles Lee, Evan Eichler, and Jan Korbel; and many other consortium members. The study involved extensive sequencing of three family trios —…

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Monday, September 11, 2017

At PMLS Meeting, a Focus on Boosting Genomic Representation of Ethnic Diversity

A panel session at the recent Precision Medicine Leaders Summit, held in San Diego last month, offered great perspectives on the need to better represent global ethnic diversity in order to make the most of genomic advances for all patients. Panelists included Robert Sebra from the Icahn School of Medicine at Mount Sinai; NCBI’s Valerie Schneider; Benedict Paten from the University of California, Santa Cruz – representing the Global Alliance for Genomics and Health; and Justin Zook, co-leader of the NIST Genome in a Bottle (GIAB) Consortium. The discussion was moderated by our own Luke Hickey. The session kicked off…

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Thursday, June 22, 2017

Stanford Scientists Report First Use of PacBio Whole Genome Sequencing to Identify a Disease-Causing Mutation

An article published today in Genetics in Medicine from Jason Merker, Euan Ashley, and colleagues at Stanford University reports the first successful application of PacBio whole genome sequencing to identify a disease-causing mutation. (Check out Stanford's news release here.) The authors describe an individual who presented over 20 years with a series of benign tumors in his heart and glands. The individual satisfied the clinical criteria for Carney complex, but after eight years of genetic evaluation, including whole genome short-read sequencing, experts were still unable to pinpoint the underlying genetic mutation and confirm a diagnosis. Ultimately, the authors turned to the…

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Wednesday, May 24, 2017

Genome Assembly Advances Featured in Genome Research Special Issue

The May issue of Genome Research is a special edition focusing on advances in sequencing technologies and genome assembly techniques. The research papers selected for this special issue cover reference-grade genome assemblies, structural variant detection, diploid assemblies, and other features enabled by new high-quality sequencing tools. The issue kicks off with a perspective from NHGRI’s Adam Phillippy, who reflects on the history of sequencing and assembly. Dusting off publications from as early as 1979, he illustrates the remarkable pace of advances in this field for the past four decades. Phillippy has worked with just about every kind of sequence data,…

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Thursday, February 2, 2017

Toward a Gold Standard for Human Structural Variation

Scientists from the University of Washington and McDonnell Genome Institute recently reported in Genome Research the results of an in-depth assessment of structural variation in the human genome using SMRT Sequencing technology. They found far more variation than expected and suggest using this approach to establish a comprehensive database of structural variants that would aid future studies. “Discovery and genotyping of structural variation from long-read haploid genome sequence data” comes from lead author John Huddleston, senior author Evan Eichler, and collaborators. The team fully sequenced two haploid human cell lines (CHM1 and CHM13) with SMRT Sequencing to greater than 60-fold…

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Wednesday, November 9, 2016

More than Halfway There: Richard Gibbs Talks Clinical Genetics with Mendelspod

Many scientists who participated in the original Human Genome Project shared a grand vision that individual genomes would one day be part of routine medical care. Genomics veteran Richard Gibbs, founder and Director of the Genome Sequencing Center at Baylor College of Medicine, tells Mendelspod host Theral Timpson in a new podcast interview that “we are more than halfway [there].” In the podcast, Gibbs shares his perspective on the complementary roles that genomics and genetics approaches have in driving our understanding of human biology.  He noted that long before the Human Genome Project gained momentum, the discovery of human single…

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Wednesday, July 6, 2016

In Chinese Genome Assembly, SMRT Sequencing Finds Novel Genes and Recovers Missing Sequence

A paper just out in Nature Communications reports the de novo genome assembly and transcriptome of a Chinese individual, generated from long-read SMRT Sequencing and other technologies. The effort revealed nearly 13 Mb of sequence not included in the GRCh38 reference genome as well as novel gene and alternative splicing content not annotated in GENCODE. “Long-read sequencing and de novo assembly of a Chinese genome” comes from lead author Lingling Shi at Jinan University and senior author Kai Wang from the University of Southern California, as well as many other collaborators in China and the US. The team was particularly interested in…

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Monday, April 25, 2016

On DNA Day Honoring Discoveries – Y chromosome, Reference Grade De Novo Assemblies & Methylation

Happy DNA Day, everyone! This scientific celebration has us reflecting on the many advancements the community has made in the past year. For a molecule that is sequenced thousands of times a day all over the world, there is still much to learn. Today we’d like to honor some of the remarkable science enabled by SMRT Sequencing since last year’s DNA Day.   Scientists have continued to make progress exploring regions of the genome that have long been considered intractable. Two of our favorite stories this year came from the always-challenging Y chromosome. Researchers studying the mosquitoes that carry malaria…

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Friday, February 19, 2016

AGBT Day 3: Human Genomes and Their Microbial Friends

We’ve been in the genomics world long enough to remember when it was a big deal to see a great single-gene assembly or microbial genome assembly reported in an AGBT talk. It’s really something to attend this year and see some beautifully assembled whole human genomes. Several of the Friday talks really captured our interest, but we can only cover a couple of them here. NCBI’s Valerie Schneider spoke about efforts through the Genome Reference Consortium to improve assembly of the human reference genome, noting that one challenge has been the shift from a clone-based approach during the Human Genome…

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Thursday, February 18, 2016

AGBT Days 1 & 2: Metagenomic Dark Matter and the GenomeAsia 100K

This year’s AGBT presentations took our minds off how much we missed the Marco Island beach. Wednesday’s opening plenary talks ranged from the ocean virome to Ebola and beyond. David Haussler’s call for open and better sharing of human genomes was a message that clearly resonated with this community, and we hope it inspires people to find new ways of breaking down the data silos. On Thursday, the 800 or so attendees braced for a full day of scientific sessions. We can’t recap all of the talks here, but check out AGBT’s blog coverage for detailed accounts of the plenary…

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Thursday, January 21, 2016

From Genetic Diagnosis to a Career in Genomics Research: An Interview with Jim Lupski

For Jim Lupski, his long-standing interest in the field of genomics is both personal and professional. His personal interest dates from his teenage years, when he was diagnosed with a rare genetic disease called Charcot-Marie-Tooth (CMT) neuropathy. As a clinician and scientist, he made it his mission to find the genetic basis of CMT, and in 1991 published his discovery of the CMT1A duplication, pioneering the field of structural variation and particularly copy number variation. Today he is a practicing pediatrician and a professor of molecular and human genetics at Baylor College of Medicine, where he is the Principal Investigator…

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Wednesday, December 2, 2015

PMWC 2016: Advancing Genomics for Improved Patient Care

We’re already looking forward to next month’s Personalized Medicine World Conference. Long before “precision medicine” was an industry catchphrase, PMWC was bringing together stakeholders from genomics companies and academic research, regulatory agencies, clinical groups, pharma/biotech, and more. Launched in 2009, the meeting has prompted important discussions as well as insight about how to move the field forward in a thoughtful way. From January 24th to the 27th, some 1,200 PMWC attendees will descend on the Computer History Museum in Mountain View, Calif. The event will kick off with a reception honoring the four awardees of this conference: Merck’s Roger Perlmutter…

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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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Tuesday, October 13, 2015

ASHG 2015: Highlights from Icahn Institute, UW, Stanford & CSHL Presentations

During the Wednesday afternoon sessions of last week's ASHG conference, several speakers provided helpful insights about their use of SMRT Sequencing for a range of applications. Highlights included the following: Yao Yang, a researcher at the Icahn School of Medicine at Mount Sinai, discussed the development of an assay to genotype the CYP2D6 gene to inform drug dosing in patients. CYP2D6 metabolizes 20-25% of all medications, including antidepressants, anti-psychotics, and opiates. There are more than 100 known variants, which include gene deletions and duplications. Variants can have profound impacts on how patients metabolize drugs, with some individuals being ultra-rapid metabolizers…

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Friday, October 9, 2015

ASHG Workshop Recap & Recording: Addressing Hidden Heritability with SMRT Sequencing

The PacBio workshop at ASHG 2015 featured talks from two leaders in human genomics, Rick Wilson of Washington University and Richard Gibbs from Baylor University. Mike Hunkapiller, CEO of Pacific Biosciences, opened the workshop with a historical perspective of human genome sequencing, starting with the Human Genome Project.  While advances have been made in technology, throughput and cost reductions, the quality of genomes hasn’t kept pace with decreases in cost, he noted. This is why Hunkapiller was particularly proud to share the news of the company’s launch of the Sequel System – which offers SMRT Sequencing and long reads at…

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