PacBio’s SMRT Sequencing Provides Scientists with a Superior Gorilla Genome Reference
March 31 2016 - 02:00PM
Pacific Biosciences of California, Inc., (Nasdaq:PACB) the pioneer
and leader in long-read sequencing using its Single Molecule,
Real-Time (SMRT®) technology, today announced that scientists from
the University of Washington, the McDonnell Genome Institute at
Washington University in St. Louis, and other institutions have
published the best genome assembly of the gorilla to date — more
than 150-fold improvement over previous assemblies — using
long-read SMRT Sequencing from Pacific Biosciences. The
peer-reviewed paper appears in the April 1 issue of the journal
Science and is available online today.
Analysis of the gorilla genome promises to shed light on
biological mechanisms behind speech, disease, neurological
behavior, and other traits that separate us from our closest
primate relatives. The previous gorilla genome assembly, built with
short-read and Sanger sequencing data, was highly fragmented,
containing more than 400,000 gaps with missing sequence, and was
constructed using the human genome as a guiding reference. The new
assembly, which was carried out de novo (i.e., without any
reference information), represents a remarkable decrease in
assembly fragmentation (433,861 pieces previously vs. 15,997 with
PacBio data, or a >96% reduction in the degree of
fragmentation). The PacBio assembly recovers 93% of the gaps and
nearly all exons missing from the previous assembly, and provides
at least 148 Mbp of additional euchromatic sequence. The authors
used information from six additional western lowland gorilla
genomes to create a pan-reference genome for use by the scientific
community.
“Our results demonstrate the utility of long-read sequence
technology to generate high-quality working draft genomes of
complex vertebrate genomes without guidance from preexisting
reference genomes,” the authors report in the paper. “The genome
assembly that results from using the long-read data provides a more
complete picture of gene content, structural variation and repeat
biology, as well as allows us to refine population genetic and
evolutionary inferences.”
The team used PacBio’s SMRT Sequencing, followed by assembly and
polishing with PacBio’s new FALCON assembly and Quiver consensus
algorithms to create a more complete picture of the gorilla genome.
FALCON enabled the researchers to traverse most repetitive
structures, validating the utility of the experimental tool for
assembling complex genomes and representing the first published use
of this genome assembler. More information about the assembly is
provided in the PacBio blog.
Jonas Korlach, Chief Scientific Officer of Pacific Biosciences,
commented: “We are delighted by the authors’ suggestion that our
approach provides a routine way to assemble complex genomes without
relying on reference genomes, bringing high-quality de novo
mammalian assemblies within the reach of individual labs. This
paper also demonstrates the importance of true long reads over
scaffolding approaches for generating highly contiguous genomes
without gaps, which is necessary for understanding gene content,
population genetic diversity, ancestral evolution, and species
biology.”
The paper, “Long-read sequence assembly of the gorilla genome,”
by Gordon et al. is available
at: http://science.sciencemag.org/cgi/doi/10.1126/science.aae0344
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.
Forward-Looking Statements
All statements in this press release that are not historical are
forward-looking statements, including, among other things,
statements relating to future uses, quality or performance of, or
benefits of using, products or technologies, and other future
events. You should not place undue reliance on forward-looking
statements because they involve known and unknown 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 Litchfield
415.793.6468
nicole@bioscribe.com
Investors:
Trevin Rard
650.521.8450
ir@pacificbiosciences.com
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