Recent Projects Highlight Success of SMRT Sequencing for Characterizing Structural Variation in Human Genomes
October 16 2017 - 7:30AM
A series of publications and initiatives from the genomics
community demonstrates the rapid adoption of Single Molecule,
Real-Time (SMRT®) Sequencing for discovering structural variants
throughout the human genome. As these previously overlooked
structural variants have been elucidated, there is increasing
recognition among scientists of the important role many of them
play in human disease. PacBio recently released new analysis
software, SMRT Link Structural Variant Calling, to support routine
structural variant identification in low-coverage, whole genome
SMRT Sequencing data.
Most of the DNA sequence that is different between any two
people is not contained in single nucleotide variants (SNVs), but
rather in structural variants representing genetic differences of
50 base pairs or longer. Structural variants can involve the
deletion and insertion of hundreds of base pairs, making them
difficult or impossible to detect with short-read DNA sequencers.
SMRT Sequencing produces read lengths averaging 10-18 kb, thus
effectively identifying structural variants in a genome, even at
low coverage.
“Discovering and identifying structural variants is essential
for a deeper understanding of human biology and, increasingly, for
characterizing and ultimately diagnosing disease,” said Jonas
Korlach, Ph.D., Chief Scientific Officer for PacBio. “After years
of overlooking structural variants due to technology limitations,
scientists are now making enormous leaps in our understanding of
these genetic elements with SMRT Sequencing. We expect that this
trend will accelerate with continued adoption of the Sequel® System
and our new Structural Variant Calling software.”
Recent structural variation publications and projects
include:
Long-read genome sequencing identifies causal structural
variation in a Mendelian disease, Genetics in Medicine
Stanford
scientists used whole genome SMRT Sequencing to detect a
disease-causing structural variant in an individual left
undiagnosed for nearly twenty years, finally confirming Carney
complex as the underlying syndrome. |
Multi-platform discovery of haplotype-resolved structural
variation in human genomes, bioRxiv preprint
This
consortium effort analyzed structural variation in three family
trios with several technology platforms, including SMRT Sequencing,
and report seven times more structural variation than was
previously found with short-read sequencing. The resulting variant
data sets can be used as gold standards throughout the genomics
community. |
Novogene to build a comprehensive Chinese genome database
To
improve precision medicine for the Chinese population, Novogene
announced that it will use SMRT Sequencing to develop a structural
variant database from genome sequences of 1,000 Chinese
individuals. |
Discovery and genotyping of structural variation from long-read
haploid genome sequence data, Genome Research
Scientists developed the SMRT-SV approach to identify structural
variants in two haploid human genomes. They conclude that PacBio
long-read sequencing is five times more sensitive to detecting
structural variants than short-read sequencers. |
Accurate detection of complex structural variations using single
molecule sequencing, bioRxiv preprint
Scientists present two new computational tools, NGMLR and Sniffles,
designed to enhance sensitivity and precision for calling
structural variants from SMRT Sequencing data. |
Complete Solution for Structural Variant Detection
Featured at ASHG Annual Meeting
Geneticists and genetics researchers can learn about PacBio’s
complete solution for structural variant detection, featuring the
Sequel System and Structural Variant Calling software, at the
American Society for Human Genetics 2017 Annual Meeting in Orlando.
Attendees can also visit PacBio in booth #722 or attend the
company’s workshop on Wednesday, October 18th, at 12:30 pm. More
information about PacBio’s activities at ASHG is available at
www.pacb.com/ASHG2017.
For more information about PacBio’s complete solution for
structural variation detection, please visit
http://www.pacb.com/sv.
About Pacific Biosciences
Pacific Biosciences of California, Inc. (NASDAQ:PACB)
offers sequencing systems to help scientists resolve genetically
complex problems. Based on its novel Single Molecule, Real-Time
(SMRT®) technology, Pacific Biosciences’ products enable: de novo
genome assembly to finish genomes in order to more fully identify,
annotate and decipher genomic structures; full-length transcript
analysis to improve annotations in reference genomes, characterize
alternatively spliced isoforms in important gene families, and find
novel genes; targeted sequencing to more comprehensively
characterize genetic variations; and real-time kinetic information
for epigenome characterization. Pacific Biosciences’ technology
provides high accuracy, ultra-long reads, uniform coverage, and is
the only DNA sequencing technology that provides the ability to
simultaneously detect epigenetic changes. PacBio® sequencing
systems, including consumables and software, provide a simple,
fast, end-to-end workflow for SMRT Sequencing. More information is
available at www.pacb.com.
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and other future events. You should not place undue reliance on
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risks, uncertainties, changes in circumstances and other factors
that are, in some cases, beyond Pacific Biosciences’ control and
could cause actual results to differ materially from the
information expressed or implied by forward-looking statements made
in this press release. Factors that could materially affect actual
results can be found in Pacific Biosciences’ most recent filings
with the Securities and Exchange Commission, including Pacific
Biosciences’ most recent reports on Forms 8-K, 10-K and 10-Q, and
include those listed under the caption “Risk Factors.” Pacific
Biosciences undertakes no obligation to revise or update
information in this press release to reflect events or
circumstances in the future, even if new information becomes
available.
Contacts
Media: Nicole Litchfield415.793.6468nicole@bioscribe.com
Investors:Trevin Rard650.521.8450ir@pacificbiosciences.com
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