Highly Accurate Long-Read Sequencing of Human Genomes Leads to Discovery of Disease-Causing Variants
Identification of pathogenic structural variants with SMRT Sequencing improves solve rate for rare and Mendelian diseases
MENLO PARK, Calif., June 13, 2019 (GLOBE NEWSWIRE) -- While DNA sequencing tools have been useful for determining the genetic cause of many diseases, there remain a large number that are left unexplained. Recently, scientists have adopted Single Molecule, Real-Time (SMRT®) Sequencing from Pacific Biosciences of California, Inc. (Nasdaq:PACB), a leading provider of high-quality sequencing of genomes, transcriptomes and epigenomes, to study previously unsolved diseases. Many high-impact research publications report expanded variant detection in human genomes, leading to discovery of disease-causing variants and genes underlying rare and Mendelian disorders.
In a Nature Communications publication, scientists report that most structural variants (SVs) and large indels are undetected in today’s human genetic studies, which likely accounts for some of the missing heritability of genetic disease1. Meanwhile, several studies have demonstrated that these missing variants can be discovered routinely using highly accurate long reads (HiFi reads) generated by the PacBio® Sequel II® System2,3. A review article from scientists at Radboud University Medical Center summarizes many of these findings, including genetic discovery results for ALS, Huntington’s disease, Parkinsonism, epilepsy, ataxias, myotonic dystrophy, and Fragile X disorders4.
For example, scientists in Japan turned to SMRT Sequencing to explain a familial form of epilepsy that had not been solved with whole exome sequencing. PacBio whole genome sequencing data allowed the team to detect more than 17,000 SVs and quickly identify the 12.4 kb deletion responsible for the family’s condition5. The team determined that “long-read sequencing ensures unbiased coverage even in GC-rich repetitive sequences, which enables the identification of previously unidentified pathogenic SVs.”
“Far too many genetic diseases have gone unsolved in the genomic era, and it’s becoming clear that some of the answers were simply not conducive to detection with previous technologies,” said Jonas Korlach, Chief Scientific Officer of Pacific Biosciences. “It’s been tremendously gratifying to see the flurry of recent publications reporting the discovery of underlying causes for some of these diseases through the use of SMRT Sequencing systems.”
Additional studies describing novel disease-causing variant detection with SMRT Sequencing will be presented at the European Society of Human Genetics (ESHG) 2019 Annual Meeting, taking place June 15-18 in Gothenburg, Sweden. To learn more, please visit PacBio in ESHG booth #560 or download a flyer with a list of featured presentations at: https://www.pacb.com/wp-content/uploads/2019-ESHG-Program-Flyer.pdf.
- Chaisson, M. J. P., et al. (2019) Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications, 10(1), 1784.
- Wenger, A. M., et al. (2019) Highly-accurate long-read sequencing improves variant detection and assembly of a human genome. bioRxiv, doi:10.1101/519025.
- Vollger, M. R., et al. (2019) Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. bioRxiv, doi:10.1101/635037.
- Mantere, T., et al. (2019) Long-read sequencing emerging in medical genetics. Frontiers in Genetics, 10, 426.
- Mizuguchi, T., et al. (2019) A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. Journal of Human Genetics, 64, 359–368.
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 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.
All statements in this press release that are not historical are forward-looking statements, including, among other things, statements relating to the attributes of the Sequel II System, the future availability, uses, accuracy, quality or performance of, or benefits of using, products or technologies, the suitability or utility of methods, products or technologies for particular applications, studies or projects, the importance of long-read sequencing data, the expected benefits of sequencing projects, 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.
One Liberty Plaza - 165 Broadway
NY 10006 New York
GlobeNewswire is one of the world's largest newswire distribution networks, specializing in the delivery of corporate press releases financial disclosures and multimedia content to the media, investment community, individual investors and the general public.
Følg saker fra GlobeNewswire
Registrer deg med din epostadresse under for å få de nyeste sakene fra GlobeNewswire på epost fortløpende. Du kan melde deg av når som helst.
Siste saker fra GlobeNewswire
Apellis Pharmaceuticals Presents Data from Ongoing APL-2 Phase 2 Study in Patients with Cold Agglutinin Disease and Warm Antibody Autoimmune Hemolytic Anemia at 24th European Hematology Association (EHA) Congress15.6.2019 16:00:00 CEST | Pressemelding
CRESTWOOD, Ky. and WALTHAM Mass., June 15, 2019 (GLOBE NEWSWIRE) -- Apellis Pharmaceuticals Inc. (Nasdaq:APLS), a clinical-stage biopharmaceutical company focused on the development of novel therapeutic compounds to treat disease through the inhibition of the complement system, today announced updated data from its Phase 2 PLAUDIT study of APL-2 in patients with autoimmune hemolytic anemia (AIHA), including cold agglutinin disease (CAD) and warm antibody autoimmune hemolytic anemia (wAIHA). Data from the PLAUDIT trial will be presented in an oral presentation today at the 24th Annual Congress of the European Hematology Association (EHA), held in Amsterdam, the Netherlands. In the ongoing PLAUDIT study, 13 patients with CAD have been enrolled to receive subcutaneous APL-2 treatment, of which 10 patients have been on APL-2 for at least 168 days. The trial has also enrolled 11 patients with wAIHA, 8 of which were Direct Antiglobulin Test (DAT) C3+ (C3+ wAIHA); 5 of the C3+ wAIHA patients
Carpenter Technology and BMT Aerospace Combine Expertise in Redesign and Production of Additively Manufactured Aerospace Component14.6.2019 15:17:00 CEST | Pressemelding
LE BOURGET, France, June 14, 2019 (GLOBE NEWSWIRE) -- Carpenter Technology Corporation (NYSE:CRS) and Belgium-based BMT Aerospace today announced their cooperation in the development of an additively manufactured (AM) aerospace pinion, using Carpenter Technology’s Custom 465® Stainless. BMT Aerospace and its subsidiary BMT Additive initiated the project by partnering with Carpenter Technology to produce a redesigned pinion. The redesign project was initiated to enable the benefits of additive manufacturing using high quality, printable material that would attain the high-performance expectations for the application. “BMT Aerospace strongly believes in the disruptive potential of additive manufacturing and its possibilities in aerospace,” explained Ewald Goossens, Business Unit Manager of BMT Additive. “As a small player in the market, we strongly believe in cooperation opportunities like these, where each partner can rely and build on a project, starting from its own expertise. Our spe
Immunophotonics and Clinical Laserthermia Systems Announce Immuno-Oncology Research Collaboration and Clinical Trials for Cancer Patients with Solid Tumors14.6.2019 13:00:00 CEST | Pressemelding
Collaboration will Combine Immunophotonics’ Proprietary Drug, IP-001, and CLS’s TRANBERG Laser Thermal Therapy System and imILT Method ST. LOUIS and LUND, Sweden, June 14, 2019 (GLOBE NEWSWIRE) -- Immunophotonics, Inc. and Clinical Laserthermia Systems, AB (STO:CLS B) (CLS) today announced they have entered into a research collaboration agreement to support a Phase 1b/2a clinical trial for cancer patients with certain solid tumor indications. The research will utilize each company’s respective products and methodologies during treatments and is intended to support early phase clinical trials facilitated by a leading clinical organization. Eligible patients with solid tumors will be treated using the locally administered CLS Immunostimulating Interstitial Laser Thermotherapy (imILT) method, followed immediately by an intratumoral injection of Immunophotonics’ lead asset, IP-001. Under the agreement, the CLS TRANBERG Laser and single-use products will be used in eligible patients enrolle
iCAD Introduces ProFound AI™ for 2D Mammography in Europe13.6.2019 14:00:00 CEST | Pressemelding
Company to showcase its newest artificial intelligence software solution, ProFound AI for 2D Mammography, in addition to ProFound AI for Digital Breast Tomosynthesis at the SIFEM Medical Conference in France NASHUA, N.H. and LILLE, France, June 13, 2019 (GLOBE NEWSWIRE) -- iCAD, Inc. (NASDAQ: ICAD), a global medical technology leader providing innovative cancer detection and therapy solutions, today announced the launch of ProFound AI™ for 2D Mammography in Europe. This software is the latest addition to iCAD’s deep-learning, artificial intelligence platform and follows the launch of ProFound AI™ for Digital Breast Tomosynthesis (DBT), which was CE Marked in March 2018 and FDA cleared in December 2018. ProFound AI for 2D Mammography and ProFound AI for DBT will both be featured in the iCAD exhibition booth (#24) at the Société Française d'Imagerie de la FEMme (SIFEM) medical conference from June 13-15, 2019 at the Grand Palais in Lille, France. “iCAD is at the forefront of the fight ag
Telix Pharmaceuticals and Eczacıbaşı-Monrol Sign Manufacturing and Distribution Agreement13.6.2019 13:54:00 CEST | Pressemelding
MELBOURNE, Australia and ISTANBUL, Turkey, June 13, 2019 (GLOBE NEWSWIRE) -- Telix Pharmaceuticals Limited (ASX.TLX) (“Telix”, the “Company”), a clinical-stage biopharmaceutical company focused on the development of diagnostic and therapeutic products based on targeted radiopharmaceuticals or “molecularly-targeted radiation” (MTR) has today announced that it has concluded a master services and distribution agreement with Eczacıbaşı-Monrol. Under the terms of the agreement, Telix has appointed Eczacıbaşı-Monrol as a radiopharmaceutical production partner and distributor in Turkey/Middle East/North Africa. Eczacıbaşı-Monrol is commercially active in more than 40 countries, including important growth territories that complement Telix’s current commercial strategy for the US and Europe. The parties will initially focus on the production and distribution of TLX250-CDx (89Zr-girentuximab) for imaging of renal cell carcinoma with Positron Emission Tomography (PET), including to support the ad
Unicorn Underwriting Successfully Implements ClarionDoor Rating and Quoting13.6.2019 11:00:00 CEST | Pressemelding
Digital distribution solutions increase profitability for program business by streamlining processes SANTA BARBARA, Calif., June 13, 2019 (GLOBE NEWSWIRE) -- ClarionDoor, Inc. (ClarionDoor) is pleased to announce Unicorn Underwriting Limited (Unicorn), a London-based managing general agent (MGA), has successfully implemented ClarionDoor’s CD Rating and CD Quoting Portal for their UK property owners insurance product. Headquartered in London, Unicorn is a member of the US-based AmWINS Group. Unicorn’s property owners insurance product provides market-leading coverage for a wide range of insureds, and is distributed through UK retail brokers. “We are excited to be launching our property owners product with ClarionDoor,” said Nate Mathis, strategy director at Unicorn. “ClarionDoor’s cloud rating and quoting software is a perfect fit for our digital strategy and enables us to improve our productivity, efficiency, and streamline business processes for our program business.” MGAs, program ad