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Category Archives: Human Genetics

Applied Therapeutics to Present Data Highlighting AT-007 for the Treatment of Galactosemia at the American Society of Human Genetics (ASHG) 2019…

Posted: October 16, 2019 at 5:08 pm

NEW YORK, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Applied Therapeutics Inc. (Nasdaq:APLT), a clinical-stage biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need, today announced the Company will give an oral presentation of data at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston (October 15-19) on AT-007, a central nervous system (CNS) penetrant Aldose Reductase inhibitor (ARI) in Phase 1/2 development for treatment of Galactosemia. In addition, the Company will host an ASHG Educational Symposium featuring a panel of Galactosemia experts.

Details on the Oral Presentation and Educational Symposium are below:

Oral Presentation

Title: AT-007, a Novel CNS Penetrant Aldose Reductase Inhibitor Prevents the Metabolic and Tissue Specific Abnormalities of Galactosemia, in a GALT Deficient Rat Model of DiseaseDate and Time: Saturday, October 19, 2019, 8:30-8:45am CTPresenter: Riccardo Perfetti, MD, PhD, Chief Medical Officer of Applied TherapeuticsSession: 99Location: Room 370A Level 3/Convention Center

The presentation will be available on the ASHG conference website as well as the Applied Therapeutics website following the session.

Galactosemia Educational Symposium

Title: Development of an Oral Treatment for GalactosemiaDate and Time: Thursday, October 17, 2019, 12:45-2:00pm CTLocation: Marriott Marquis Houston, Room Briargrove AB, Level 3Key Topics:

Additional details for the event can be found here.

About Galactosemia Galactosemia is a rare metabolic disease that affects how the body processes a simple sugar called galactose, and for which there is no known cure or approved treatment available. Galactose is found in foods, but the human body also naturally produces galactose on its own, so dietary restriction cant prevent complications of disease. It is estimated that the U.S. Galactosemia population is approximately 2,800 patients, based on newborn screening data identifying 2,500 infants through 2014, and the estimated birth rate of 80 patients per year. High levels of galactose circulating in the blood and tissues of Galactosemia patients enables Aldose Reductase to convert galactose to a toxic metabolite, called galactitol, which causes long-term complications ranging from CNS dysfunction to cataracts.

About AT-007AT-007 is a central nervous system (CNS) penetrant Aldose Reductase inhibitor (ARI) in Phase 1/2 development for treatment of Galactosemia. AT-007 has been studied in in an animal model of Galactosemia, which demonstrated that AT-007 reduces toxic galactitol levels and prevents disease complications.Applied Therapeuticsis conducting a biomarker based development program in patients with Galactosemia, based on the recently released draft industry guidance on drug development for low prevalence, slowly progressing rare metabolic diseases. The company received Orphan Designation for AT-007 for Galactosemia inMay 2019.

About Applied TherapeuticsApplied Therapeuticsis a clinical-stage biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need. The companys lead drug candidate, AT-001, is a novel aldose reductase inhibitor (ARI) that is being developed for the treatment of Diabetic Cardiomyopathy, or DbCM, a fatal fibrosis of the heart. The company initiated a Phase 3 registrational study in DbCM inSeptember 2019.Applied Therapeuticsis also developing AT-007, a central nervous system penetrant ARI, for the treatment of Galactosemia, a rare pediatric metabolic disease, and initiated a Phase 1/2 clinical trial inJune 2019. The preclinical pipeline also includes AT-003, an ARI designed to cross through the back of the eye when dosed orally, for the treatment of diabetic retinopathy, expected to advance into a Phase 1 study in 2020.

Forward-looking StatementsThis press release contains forward-looking statements that involve substantial risks and uncertainties for purposes of the safe harbor provided by the Private Securities Litigation Reform Act of 1995. Any statements, other than statements of historical fact, included in this press release regarding strategy, future operations, prospects, plans and objectives of management, including words such as "may," "will," "expect," "anticipate," "plan," "intend," and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) are forward-looking statements. These include, without limitation, statements regarding(i) the design, scope and results of our clinical trials, (ii) the timing of the initiation and completion of our clinical trials, (iii) the likelihood that data from our clinical trials will support future development of our product candidates, (iv) the likelihood of obtaining regulatory approval of our product candidates and qualifying for any special designations, such as orphan drug designation, (v) our cash runway and the timing of our clinical development plan.Forward-looking statements in this release involve substantial risks and uncertainties that could cause actual results to differ materially from those expressed or implied by the forward-looking statements, and we, therefore cannot assure you that our plans, intentions, expectations or strategies will be attained or achieved. Such risks and uncertainties include, without limitation, the uncertainties inherent in the initiation, execution and completion of clinical trials, in the timing of availability of trial data, in the results of the clinical trials, in the actions of regulatory agencies, in the commercialization and acceptance of new therapies. Factors that may cause actual results to differ from those expressed or implied in the forward-looking statements in this press release are discussed in our filings with theU.S. Securities and Exchange Commission, including the Risk Factors contained therein. Except as otherwise required by law, we disclaim any intention or obligation to update or revise any forward-looking statements, which speak only as of the date they were made, whether as a result of new information, future events or circumstances or otherwise.

Contacts

Investors:Maeve Conneighton(212) 600-1902 orappliedtherapeutics@argotpartners.com

Media:Brittany Horowitz(212) 704-4466 ormedia@appliedtherapeutics.com

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Applied Therapeutics to Present Data Highlighting AT-007 for the Treatment of Galactosemia at the American Society of Human Genetics (ASHG) 2019...

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New Data from Ambry Genetics Demonstrates Impact of First Major Advancement in Over 10 Years to Increase Diagnostic Yield in Genetic Testing for…

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University of Utah announces 6 new professorships in health and clinical research funded by the Huntsman family – Salt Lake Tribune

Posted: at 5:08 pm

The contribution is part of ongoing support for chairperson positions at the school that were announced in 2017 when the initial six positions were named. This latest installment comes now after the family said goodbye to Huntsman Sr. in February 2018.

Thanks to the tremendous generosity of the Huntsman family, we are thrilled to be able to honor these outstanding faculty members, said U. President Ruth Watkins in a news release.

Accordingly, the professorships at the U. focus on health and clinical research. The chairpersons will sit for a five-year term, ending in June 2024. Here are the six individuals selected:

Bass is a professor of biochemistry and human genetics. She studies cell growth, too, at the Huntsman Cancer Institute, including the pathways of RNA.

Colman is a professor of neurosurgery who has been nationally recognized for his research. He focuses on the treatment of primary and metastatic brain tumors. And he has taken a special interest in developing new therapies to treat those.

Cummins teaches in the U.'s College of Nursing. Her research interest is on improving health care for patients.

Looper is professor of both organic and bioorganic chemistry who came to the U. in 2007 after studying at Harvard. He studies molecule behavior and how that impacts diseases, such as arthritis, multiple sclerosis and cancer.

Steffen Schmitz-Valckenberg

Schmitz-Valckenberg researches in ophthalmology and visual sciences at the U. He focuses on age-related macular degeneration and performs eye surgery.

Shepherd teaches neurobiology and anatomy and researches how the brains processes malfunction with neurological disorders.

Editors note: Paul Huntsman, a son of the late Jon Huntsman Sr., is the owner and publisher of The Salt Lake Tribune.

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Top Researchers to Present Discoveries Made Possible by Bionano’s Saphyr System for Genome Imaging Technology at the ASHG 2019 Annual Meeting -…

Posted: at 5:08 pm

SAN DIEGO, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that disease researchers using Bionanos Saphyr system for whole genome imaging will present their results at the American Society of Human Genetics (ASHG) Annual Meeting, between October 15-19 in Austin, Texas.

The impact of analysis using the Saphyr system for ultra-sensitive and ultra-specific genome-wide detection of structural variation will be presented at ASHG with 22 oral and poster presentations and an Educational Event hosted by Bionano.

ASHG 2019 represents a milestone for Bionano, with a record number of presentations demonstrating novel discoveries through our genome mapping technology, said Erik Holmlin, Ph.D., CEO of Bionano. The growing use of the Saphyr system in disease research illustrates the value in identifying genomic variations for deep understanding of disease origin and diagnostic development.

Optical mapping through Saphyr enables the direct observation of large genomic variations through imaging of fluorescently labeled, megabase-size native DNA molecules. Next-generation sequencing (NGS), in contrast, relies on short-reads that piece together sequence fragments in an attempt to rebuild the actual structure of the genome. NGS often misses large DNA variations, such as deletions, insertions, duplications, and translocations and inversions. Genome mapping resolves these structural variations for more insight into the genetic variations that cause disease.

Below is a summary of key presentations to be given at ASHG 2019 featuring the use of optical genome mapping:

Genetic diagnosis of sex development disorders through optical mappingHalf of disorders of sex development (DSD) patients lack a firm diagnosis. Prof. Eric Vilain, from George Washington University and Childrens National Medical Center, will present research validating the diagnostic and gene discovery use of Bionano genome mapping to identify structural variants in patients with DSD. The talk, entitled Integration of optical genome mapping and sequencing technologies for identification of structural variants in DSD, will be presented on Wed. Oct. 16 at 5:15 - 5:30 pm in the convention center Level 3, Room 361D.

Genomic mapping has the potential to replace a combination of current cytogenetic techniquesCurrently, a comprehensive clinical analysis of genomic aberrations requires a combination of various assays such as CNV-microarrays, karyotyping and fluorescence in situ hybridization (FISH). Dr. Tuomo Mantere, from Radboud University Medical Center, will present data directly comparing traditional cytogenetic assays with Bionano mapping in leukemia patient samples to illustrate that genome mapping can identify all aberrations found by the three conventional technologies combined, and additional variants as well. The poster, entitled Next-generation cytogenetics: High-resolution optical mapping to replace FISH, karyotyping and CNV-microarrays will be presented on Thurs. Oct. 17, between 2 - 3pm, PgmNr 2533/T.

Genomic architecture reveals critical factors that may contribute to schizophrenia-associated 3q29 chromosomal deletionDeletions at the 3q29 chromosomal locus are associated with a 40-fold increase in risk for schizophrenia. Knowing the features that contribute to genomic instability is critical for identifying risk factors of chromosomal deletions. Trenel Mosley, from Emory University, will present the discovery of novel genomic structural characteristics found in 12 patients with 3q29 deletion and their parents using Saphyr. The poster entitled, Optical mapping of the schizophrenia-associated 3q29 deletion reveals new features of genomic architecture, will be presented on Wed. Oct. 16, between 2 - 3pm, PgmNr 1389/W.

Bionano and NGS resolve complex rearrangements in extrachromosomal, circular DNA in glioblastoma The rapid growth of aggressive tumors such as glioblastoma is partially caused by the rapid amplification of oncogenes in circular structures outside of native chromosomes. Because these structures do not occur in the reference genome, standard analysis methods fail to correctly assemble them. Jens Luebeck, from the University of California, San Diego, demonstrates that a combination of Bionano genome mapping and NGS resolves important breakpoints and gene amplifications in extrachromosomal DNA. The talk, entitled Integrated Analysis of NGS and Optical Mapping Resolves the Complex Structure of Highly Rearranged Focal Amplifications in Cancer, will be presented on Sat. Oct. 19, from 10:15 - 10:30am PgmNr: 323

Bionano Educational Event will feature research on muscular dystrophy, prenatal development & neurodegenerative disordersAt Bionanos educational event, Dr. Alka Chaubey from Perkin Elmer Genomics, Dr. Frances High from Mass General Hospital for Children, and Dr. Mark Ebbert from the Mayo Clinic will present findings from their work using the Saphyr system for structural genomic resolution. Analysis of chromosomal repeats, complex genomic haplotypes, and risk loci found in genetic disease will be highlighted by the speakers. Entitled Resolving Structural Variants Across the Whole Genome to Power Your Next Discovery in Human Genetics, the event will take place on Thurs. Oct 17, from 12:45 - 2:00pm at the Marriott Marquis, Houston, River Oaks, Level 3, and include a complimentary lunch.

Additional presentations featuring optical genome mapping:

High Throughput Analysis of Tandem Repeat Contraction Associated with Facioscapulohumeral Muscular Dystrophy (FSHD) by Optical MappingPresented by Jian Wang, Bionano GenomicsWed. Oct. 16, 2 - 3pm PgmNr: 2535/W

Full Genome Analysis for Identification of Single Nucleotide and Structural Variants in Genes that Cause Developmental DelayPresented by Hsiao-Jung Kao, Academia SINICAWed. Oct. 16, 2 - 3pm PgmNr: 2547/W

A Robust Benchmark for Germline Structural Variant DetectionPresented by Justin Zook, National Institute of Standards and TechnologyWed. Oct. 16, 2 - 3pm PgmNr: 1695/W

De Novo Genome Assembly and Phasing for Undiagnosed ConditionsPresented by Joseph Shieh, University of California, San FranciscoWed. Oct. 16, 2 -3 pm PgmNr: 2529/W

Bionano Prep SP Isolates High Quality Ultra-high Molecular Weight (UHMW) Genomic DNA to Improve Research of Cancer and Undiagnosed DisordersPresented by Henry Sadowski, Bionano GenomicsWed. Oct. 16, 3 - 4pm PgmNr: 2598/W

nanotatoR: An Annotation Tool for Genomic Structural VariantsPresented by Surajit Bhattacharya, Childrens National Medical CenterWed. Oct. 16, 3 - 4pm PgmNr: 1506/W

Detection, Characterization, and Breakpoint Refinement of Balanced Rearrangements by Optical Mapping in Clinical CasesPresented by Alex Hastie, Bionano Genomics + LabCorpThurs. Oct. 17, 2 - 3pm PgmNr: 2569/T

Genetic/epigenetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) via Optical MappingPresented by Yi-Wen Chen, Childrens National Medical CenterThurs. Oct. 17, 2 - 3pm PgmNr: 2533/T

Comprehensive Analysis of Structural Variants in Clinical Cancer SamplesPresented by Ernest Lam, Bionano GenomicsThurs. Oct. 17, 3 - 4pm PgmNr: 1060/T

Advanced Structural Analysis of CDH Risk Loci with Optical Genome Mapping TechnologyPresented by Mauro Longoni, Massachusetts General HospitalThurs. Oct. 17, 3 - 4pm PgmNr: 2578/T

Structural Variants Associated with GWAS SNPs Provide Mechanistic Explanation of Phenotypic AssociationsPresented by Seth Berger, Childrens National Medical CenterThurs. Oct. 17, 3 - 4pm PgmNr: 2254/T

The Complete Linear Assembly and Methylation Map of Human Chromosome 8Presented by Glennis Logsdon, University of WashingtonFri. Oct. 18, 1 - 2pm PgmNr: 1703/F

High Throughput High Molecular Weight DNA Extraction from Human Tissues for Long-read SequencingPresented by Kelvin Liu, CirculomicsFri. Oct. 18, 1 - 2pm PgmNr: 1769/F

Optical Mapping for Chromosomal Abnormalities: A Pilot Feasibility Study for Clinical UsePresented by Gokce Toruner, UT MD Anderson Cancer CenterFri. Oct. 18, 1 - 2pm PgmNr: 2447/F

Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical MappingPresented by Mark Ebbert, Mayo ClinicFri. Oct. 18, 2 - 3pm PgmNr: 1760/F

Dark and Camouflaged Genes May Harbor Disease-relevant Variants that Long-read Sequencing Can ResolvePresented by Andy Pang, Bionano GenomicsFri. Oct. 18, 2 - 3pm PgmNr: 1814/F

Bionano Genomics Sample to Answer Workflow for Single Molecule Analysis of Variation in Genome StructurePresented by Sven Bocklandt, Bionano GenomicsFri. Oct. 18, 2 - 3pm PgmNr: 1838/F

Draft Assembly of an Armenian GenomePresented by Hayk Barseghyan, Childrens National Medical CenterFri. Oct. 18, 2 - 3pm PgmNr: 2342/F

About Bionano GenomicsBionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools. For more information, visit http://www.bionanogenomics.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including among other things: the timing and content of the presentations identified in this press release; and the ability of genome mapping to perform comprehensive clinical analysis as well as conventional technologies. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

ContactsCompany Contact:Mike Ward, CFOBionano Genomics, Inc.+1 (858) 888-7600mward@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 775-5956arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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Top Researchers to Present Discoveries Made Possible by Bionano's Saphyr System for Genome Imaging Technology at the ASHG 2019 Annual Meeting -...

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Software and Analytics Company to Deploy Cutting Edge Platform for Leading Fertility Organization – PRNewswire

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AUSTIN, Texas, Oct. 16, 2019 /PRNewswire/ -- L7 Informatics, Inc. ("L7"), a leading software and analytics company for healthcare and life science companies, announces the completion of the Phase 1 implementation of its Enterprise Scientific Platform (ESP) with CReATe Fertility Centre. CReATe, which stands for Canadian Reproductive Assisted Technology is headquartered in Toronto, Canada, and is internationally renowned for its specialized fertility services and ground-breaking research. The organization was seeking a scientific information management platform to streamline and optimize their genomics testing operations.

"We are very honored to be chosen to work with CReATe, they are leaders in the field of assisted reproductive technologies with state-of-the-art laboratory facilities and pioneering research scientists," said L7 CEO & President, Vasu Rangadass, Ph.D. "In connection with these high standards, we feel ESP is the ideal platform to streamline the overall Reproductive genomic lab processes by integrating with multiple laboratory instruments, managing complex sample provenance, managing sample storage, inventory, and automating a multitude of important tasks such as bar code printing and clinical report generation."

This project is being completed in four phases and focuses on configuring workflow chains and supporting models (sample types, procedures, etc.) to support four of the array of tests performed by CReATe Reproductive Genomic Lab: PGT-A, PGT-M/PGT-SR, POC testing, and Focused carrier screening. L7's ESP fosters process orchestration and expedites clinical diagnostics by building an integrated, instrument agnostic platform to manage scientific processes and data in one place and yielding better access to the data and results.

"L7's ESP has enabled us to bring patient clinical information from our EMR at the click of a button, and to track laboratory operations meeting OLA and CAP regulations, using its powerful audit trail and provenance history capabilities," mentioned Svetlana Madjunkova MD, PhD., Director of Reproductive Genetics Department at CReATe. Adding, "It's truly a game-changer and will contribute to the advancement of our IVF clinical operations and research."

L7 Informatics and CReATe are also excited to announce that they will be speaking together about their work at the upcoming 2019 American Society of Human Genetics (ASHG) Conference in Houston, Texas. They will partake in a Data CoLabs presentation titled "IVF in silico: fertilization assistance by facilitating clinical and research collaboration" on Wednesday, October 16th at 12:45 pm in CoLab Theatre 2 on the exhibit floor. Robert Zeigler, Ph.D., Director of Customer Solutions for L7 and Dr. Madjunkova will walk the audience through the project, highlighting best-in-class practices.

About L7 InformaticsOur mission is to revolutionize scientific information management to accelerate discoveries and drive higher quality of healthcare. Our end-to-end solutions and services yield efficiencies that enable researchers to make more breakthroughs and healthcare companies to provide superior care. To learn more about L7's Enterprise Science Platform, please go to https://www.l7informatics.com/esp/

About CReATe IVFCReATe Fertility Centre mission is to provide state of the art and compassionate care in a safe environment for our patients and staff; undertake innovative research and provide excellent teaching and mentorship. To learn more about CReATe Fertility Centre, please go to https://www.createivf.com/

Media Contact:Jessica TobeySpeaks Marketing Group LLCJessica@Speaksmarketing.com

SOURCE L7 Informatics, Inc.

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Global NGS Sample Preparation Market to 2025: Focus on Product, Workflow, Therapy Area, Application, End User – ResearchAndMarkets.com – Business Wire

Posted: at 5:08 pm

DUBLIN--(BUSINESS WIRE)--The "Global NGS Sample Preparation Market - Forecast to 2025" report has been added to ResearchAndMarkets.com's offering.

The NGS sample preparation industry analysis projects the market to grow at a significant CAGR of 15.54% during the forecast period, 2019-2025. The NGS sample preparation market generated $1,140.0 million in revenue in 2018, in terms of value.

Key Questions Answered in this Report:

The NGS sample preparation market growth has been primarily attributed to the major drivers in this market such as the rising prevalence of genetic disorders and infectious diseases, increasing direct-to-consumer genetic testing, and increasing research in the field of genomics. However, there are significant challenges that are restraining market growth. These challenges include cost constraints pertaining to automated NGS sample preparation affecting adoption, lack of high complexity genetic testing centers, and regulatory uncertainty.

Scope of the Market Intelligence on NGS Sample Preparation Market

The NGS sample preparation research provides a holistic view of the market in terms of various factors influencing it, including product optimization, and technological advancements.

The scope of this report is centered upon conducting a detailed study of the products and manufacturers allied with the market. In addition, the study also includes exhaustive information on the unmet needs, perception of the new products, competitive landscape, market share of leading manufacturers, the growth potential of each underlying sub-segment, and company, as well as other vital information with respect to global NGS sample preparation market.

Key Topics Covered:

1 Research Scope and Methodology

1.1 Scope of the Study

1.2 Research Methodology

1.3 Data Sources

1.4 Assumptions and Limitations

1.5 Data and Prediction Modelling

2 Market Overview

2.1 The Basic NGS Workflow

2.2 Global NGS Sample Preparation Market Scenario

3 Market Dynamics

3.1 Drivers

3.1.1 Short Term Driver

3.1.1.1 Rising Prevalence of Genetic Disorders

3.1.2 Current Drivers

3.1.2.1 Increasing Direct-to-Consumer Genetic Testing

3.1.2.2 Rising Prevalence of Infectious Diseases

3.1.3 Long Term Driver

3.1.3.1 Increasing Research Funding in the Field of Genomics

3.2 Restraints

3.2.1 Short Term Restraint

3.2.1.1 High Cost of Automated NGS Sample Preparation Instruments

3.2.2 Current Restraint

3.2.2.1 Lack of Advanced Genetic Testing Centers

3.2.3 Long Term Restraint

3.2.3.1 Stringent Regulatory Standards

3.3 Market Opportunities

3.3.1 Adoption of Automated NGS Sample Preparation in the Emerging Markets

3.3.2 Technological Advancements in NGS Sample Preparation

3.3.3 Opportunity (by Product)

3.3.3.1 Workstations

3.3.3.2 Consumables

3.3.4 Opportunity (by Application)

3.3.4.1 DNA Sequencing

3.3.4.2 Metagenomics

3.3.5 Opportunity (by Region)

3.3.5.1 North America

3.3.5.2 APAC

4 Automated NGS Sample Preparation Market: Industry Insights

4.1 Key Developments

4.1.1 Product Launch

4.1.2 Collaborations, Partnerships and Agreements:

4.1.3 Product Enhancements

4.1.4 Acquisitions

4.1.5 Business Expansions

4.2 Industry Trends

4.2.1 Preference for Automated NGS Sample Preparation Workstations Integrated with QC (Quality Control)

4.2.2 Growing Trend for the Preference of Customized Automated NGS Sample Preparation Platform

5 Next-Generation Sequencing Sample Preparation Market, End-User & Pricing Analysis

5.1 Satisfaction Level of Different Instruments (by Brand)

5.2 Pricing Analysis of Preferred Products- Step Wise (Sample Quantification, Library Preparation, Target Enrichment, Library Quantification)

5.3 Pricing Analysis - Accessories and Components

5.4 Pricing Analysis - Consumables

6 NGS Sample Preparation Market (by Product)

6.1 Automated Workstations

6.1.1 Open Systems

6.1.2 Closed Systems

6.2 Standalone Automation Instruments

6.2.1 Fragment Analyzer

6.2.2 Ultrasonicator/ Sonicator

6.2.3 DNA/RNA Shearing Instruments

6.2.4 Template Preparation Instruments

6.2.5 DNA Selection Instruments

6.2.6 Nucleic Acid Extraction/Isolation System

6.3 Consumables

6.3.1 Sample Extraction and Isolation Kits

6.3.2 Sample Purification Kits

6.3.3 Library Preparation Kits

6.3.3.1 DNA Library Preparation Kits

6.3.3.2 RNA Library Preparation Kits

6.3.3.3 FFPE DNA Kits

6.3.3.4 ChIP-Seq Library Preparation

6.3.3.5 Library Quantitation

6.3.3.6 Library Amplification

6.3.3.7 Library Preparation Accessories

6.3.4 Clean-up and Selection Kits

6.3.5 Target Enrichment Kits

6.3.6 Microbiome DNA Enrichment

6.3.7 Other Consumables

6.4 Accessories and Components

7 NGS Sample Preparation Market (by Workflow)

7.1 Sample Extraction/Isolation

7.2 Sample Quantification

7.3 Quality Control

7.4 Fragmentation

7.5 Library preparation

7.6 Target Enrichment

7.7 Library Quantification

7.8 Pooling

8 NGS Sample Preparation Market (by Therapeutic Area)

8.1 Oncology

8.2 Human Genetics/Population Genetics

8.3 Prenatal/Neonatal

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Global NGS Sample Preparation Market to 2025: Focus on Product, Workflow, Therapy Area, Application, End User - ResearchAndMarkets.com - Business Wire

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Gencove launches the first enterprise-ready low-pass sequencing imputation and analysis software as a service – BioSpace

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NEW YORK, Oct. 15, 2019 /PRNewswire/ -- Gencove, the leading low-pass genome sequencing technology provider, announced today the launch of the first enterprise-ready low-pass sequencing analysis platform. The new cloud-based solution for imputation and downstream analytics of low-pass sequencing data is an important step forward in expanding the access to this technology.

Gencove's low-pass sequencing is a high-throughput, cost-efficient solution for large scale genomic applications. For the last two years, Gencove has successfully helped organizations across industries from academia to agriculture switch from genotyping arrays to sequencing technologies.

The new platform supports human, agricultural, companion animal and model organism applications. Gencove's SaaS also provides additional analysis on top of low-pass data, like polygenic risk score calculations, ancestry/breed analysis and CNV analysis. This platform is available via web app at gencove.com, or can be interacted with in an automated manner via the API and command line interface.

Gencove's team will be demonstrating the software at the American Society of Human Genetics (ASHG) conference in Houston, Texas, from October 16th-18th, at booth #1413.

About Gencove:Gencove is a spin-out of the New York Genome Center dedicated to making genomic data more accessible and interpretable through the development of molecular and computational tools. Gencove's flagship product is its low-pass genome sequencing platform; the company operates a laboratory in New York and offers both low-pass sequencing and analytics software as a service, with customers that include top academic institutions, biotechnology and pharmaceutical companies. More information is available at http://www.gencove.com.

Media Contact:Maria Vazquez646-583-3246maria.vazquez@gencove.com

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Gencove launches the first enterprise-ready low-pass sequencing imputation and analysis software as a service - BioSpace

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Bionano Genomics Announces Adoption of Its Saphyr System by Clinical Cytogenetics Groups in Academia and Industry to Replace Traditional Methods for…

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SAN DIEGO, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO), a life sciences instrumentation company that develops and markets the Saphyr system, a genome imaging platform for ultra-sensitive and ultra-specific genome-wide structural variation detection, today announced that leading organizations, including PerkinElmer Genomics and the University of Iowa, have adopted Saphyr for use in their clinical genomics laboratories. PerkinElmer Genomics and the University of Iowa have developed assays based on the Bionano optical mapping technology to expand their comprehensive suite of genetic tests assessing disease-associated chromosomal abnormalities. Their lead indication is Facioscapulohumeral Muscular Dystrophy (FSHD).

FSHD is one of the most prevalent forms of muscular dystrophy and affects approximately 1 in 10,000 individuals. It is caused by changes in the number of repeats in a section of chromosome 4. To correctly diagnose FSHD, an exact count of the repeat number is necessary. To date, molecular diagnoses for FSHD are generated using outdated Southern Blot techniques, which are imprecise, labor intensive and involve radioactive labeling methods which are being phased out of laboratory use for safety reasons. In contrast, the assays developed by PerkinElmer Genomics and the University of Iowawith the Bionano EnFocus FSHD Analysis tool are reproducible, safe, fast, and automated with minimal hands-on time. These assays provide an exact repeat number for the pathogenic and non-pathogenic variants, give a high-resolution view of the repeat regions and have a high sensitivity to mosaicism.

Jamshid Arjomand, Ph.D., CSO of the FSHD Society, the leading research-focused patient organization forFSHD, said, The FSHD community has been waiting years for an accessible and robust assay like this. The lack of timely and affordable genetic testing has been a major hurdle for the FSHD community. Thousands of patients have never received a molecular diagnosis, which limits successful recruitment into the increasing number of clinical research and clinical trial studies for this devastating disease. We are delighted that Bionanos Saphyr system enables a more precise and higher throughput method for FSHD genetic testing and are grateful to diagnostic groups and companies that are making genetic testing more accessible to our families.

We are pleased to be the first US laboratory to develop and validate an assay based on the Bionano Saphyr system in a clinical setting under CLIA/CAP guidelines" stated Madhuri Hegde, Ph.D., FACMG, Vice President and CSO of PerkinElmer Genomics. "We are committed to helping patients and families that need genetic testing and are excited about the strong clinical utility of this assay for the molecular assessment of FSHD patients."

Erik Holmlin, Ph.D., CEO of Bionano, commented, We have always believed that Bionanos unique ability to image long, intact DNA molecules could enable the Saphyr system users to develop assays in a clinical setting to modernize and streamline the practice of cytogenetics. Our teams have worked tirelessly to improve the speed, quality, throughput, and robustness of the optical mapping application of genome imaging while simultaneously reducing cost, assay complexity and data analysis. We believe Saphyr is ready to be adopted for assay development in a routine clinical workflow, and we are thrilled that PerkinElmer Genomics and the University of Iowa are taking the lead in making the Saphyr system a tool for next-generation cytogenomics, with many other academic, CRO and reference laboratories expected to follow. We believe that FSHD is just the start of a wide array of clinical genetics assays that labs will develop with our technology.

Results of the PerkinElmer Genomics FSHD evaluation study using the Saphyr system will be presented by Alka Chaubey, Ph.D., FACMG, Head of Cytogenomics and Laboratory Director at PerkinElmer Genomics at the Bionano Genomics ASHG exhibitor workshop on Thursday, Oct. 17, 2019 from 12:45 pm 2:00 pm at the Houston Marriott Marquis. More information about the workshop can be found online, and a recording will be made available on Bionanos website.

Bionano will showcase the Bionano EnFocus FSHD Analysis tool for fast, streamlinedbioinformaticsassessment of theFSHD locusfrom genome-wide optical mapping data at booth #527 during the annualAmerican Society of Human Genetics Annual Meeting, Oct. 15-19, 2019.

About Bionano Genomics

Bionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets andto establish digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools. More information about Bionano Genomics is available at http://www.bionanogenomics.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including, among other things: conclusions as to Saphyrs potential as a powerful new tool in cytogenetics; Saphyrs potential contribution to improvements in traditional cytogenetics; the University of Iowas or PerkinElmer Genomics plans to develop additional assays using our technology; our beliefs regarding the Saphyr systems readiness for clinical adoption andour expectations regarding adoption by other academic, CRO and reference laboratories using our technology; PerkinElmer Genomics commercial plans; plans of other Saphyr system users to implement their own assays for FSHD and other genetic disorders; and certain planned presentations by PerkinElmer Genomics and us. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

Contacts

Company Contact:Mike Ward, CFOBionano Genomics, Inc.+1 (858) 888-7600mward@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617)775-5956arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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Bionano Genomics Announces Adoption of Its Saphyr System by Clinical Cytogenetics Groups in Academia and Industry to Replace Traditional Methods for...

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"There is no reason for germline therapy" – Mirage News

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Stefan Mundlos, from the Max Planck Institute for Molecular Genetics, explains why there will be no designer babies in the near future

The first genetically modified humans were born in China in 2018. Now scientists and politicians in Russia are discussing whether using CRISPR/Cas9 to edit the genome of human embryos should be permitted. Stefan Mundlos, of the Max Planck Institute for Molecular Genetics in Berlin, is a member of the Genome Editing working group within the Ethics Council of the Max-Planck-Gesellschaft. The scientist, who himself uses CRISPR/Cas in his research, believes the concern over uncontrolled manipulation of the human genome is exaggerated.

Stefan Mundlos conducts research into rare bone diseases triggered by altered genes.

Edgar Zippel

Professor Mundlos, is the modification of human cells ethically justifiable?

It depends whether we are talking about normal body cells the somatic cells as they are known or about germline cells: sperm and egg cells. Somatic cells do not pass on their genetic material. If the genome of these cells is modified, the mutation disappears with the death of the patient. Such an intervention for the treatment of hereditary conditions or cancer is comparable to other cell-based therapies and therefore ethically unproblematic.

What about germline genome editing?

Thats completely different. The task of sperm and egg cells is to provide offspring. So they pass on their genetic material to the next generation. Manipulating the germline will therefore affect people who are not yet born at the time of modification, and cannot therefore give their consent. Thats ethically unacceptable. As genome editing is also not yet precise enough to avoid causing unintended mutations, the Max-Planck-Gesellschaft has spoken out against interventions in the germline in its discussion paper on genome editing.

How safe is the technique then?

CRISPR/Cas9 does work very precisely, and almost always cuts the DNA at a defined point. But despite that, mistakes can happen. Researchers are currently working on even more exact and less error-prone variations of the technique. In any case, we will always have to check whether modified cells do indeed only carry the desired mutations.

What significance will genome editing in humans have in the future?

The modification of normal body cells definitely has great medical potential. Conditions that are caused by one or a few mutations, such as some forms of leukaemia, could be treated this way. Im sure that well be able to treat the first patients using this method in just a few years.

On the other hand, I dont see any need for germline gene therapy, since there are equivalent and ethically less problematic alternatives. Using in-vitro fertilization and pre-implantation diagnostics, embryos free from adverse mutations can be selected for implantation.

Many people fear that genome editing will be used not just for treating illnesses, but also to optimize human characteristics. In the future, will we have particularly intelligent or tall designer babies thanks to this new technique?

I dont see any danger of this happening in the foreseeable future. Characteristics such as intelligence, height, or other characteristics we might wish to optimize, are influenced by many different genes. We are far from even understanding these gene networks, much less being able to manipulate them. Its quite possible that doing this will be completely impossible without triggering undesired effects elsewhere.

Some scientists are demanding a moratorium, a voluntary commitment to refrain from carrying out any modification of the human germline. What do you think about that?

I dont believe such a moratorium would be effective. The circle of scientists who can implement the technology is too wide for that. There will always be someone, somewhere in the world, who doesnt feel bound by the moratorium. And in any case, who would be responsible for policing it?

Is there no stopping the manipulation of the human genome then?

Im convinced that the lack of benefit will be much more effective than bans or voluntary commitments regarding germline gene therapy. Why would a pregnant woman have egg cells removed, if she can achieve the same result for her child by much less troublesome means? There would be no reason, and therefore no market for it.

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"There is no reason for germline therapy" - Mirage News

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Most genetic studies use only white participants this will lead to greater health inequality – The Conversation UK

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Few areas of science have seen such a dramatic development in the last decade as genomics. It is now possible to read the genomes of millions of people in so-called genome-wide association studies. These studies have identified thousands of small differences in our genome that are linked to diseases, such as cancer, heart disease and mental health.

Most of these genetic studies use data from white people over 78% of participants are of European descent. This doesnt mean that they represent Europe. In fact, only three nationalities make up most of the participants: the US, UK, and Iceland. Even though the UK and the US have very diverse populations, their non-white citizens have rarely been included in genetic research.

In recent years, efforts to collect multi-ethnic data have increased. One example is the UK Biobank, a collection of data from half a million British people accessible to any bona fide researcher. It includes some 35,000 DNA samples from people who are either non-European or mixed-race. Yet 92% of research papers on UK Biobank only used the data from the European-descent samples. So collecting data doesnt automatically solve the problem of non-white representation in research.

The under-representation of non-European groups is problematic for scientific and ethical reasons. The effects of gene variants that are present only in the unstudied groups remain unknown, which means important clues about the causes of diseases might be missed. Such undiscovered genes would not be included when testing for genetic diseases. So a person carrying one of them could wrongly get a negative genetic test result and might be told that they are not at increased risk of developing the disease.

Read more: How the genomics health revolution is failing ethnic minorities

Our recent work also shows that existing genetic findings might not apply equally to non-European populations. We found that some gene variants predicting high cholesterol in white populations do not lead to the same heart problems in people from rural Uganda. These findings should serve as a major warning to the field of genetics one cannot blindly apply findings from ancestrally European groups to everyone else.

It is important to support the global application of research because scientists have a moral responsibility to develop science for the benefit of the whole of humanity, not restricted by ethnic, cultural, economic or educational boundaries. Some 80% of the worlds population live in low and middle-income countries where healthcare and research are constrained by limited financial and human resources. We should not overlook this part of the world.

Studying different populations has advanced the medical field for everyones benefit. For example, the first disease gene mapped in humans was the gene for Huntingtons disease in 1983, identified through examining a large population of patients in villages surrounding Lake Maracaibo in Venezuela. The area was found to have the largest concentration of Huntingtons disease sufferers in the world, which helped them to find the gene.

More recently, a study of schizophrenia found new risk genes by using African and Latino American samples. Genetic risk scores based on results from these groups improved the ability to predict who would develop schizophrenia in all ethnic groups.

Read more: Decolonise science time to end another imperial era

Two things need to happen if we want to avoid increasing health disparities and instead share the medical benefits of genomic science across countries and ethnic groups. First, we need more large diverse studies. First steps in this direction are being taken by the Human Hereditary and Health in Africa Initiative. PAGE and All of Us are paving the way to recruit more diverse ethnic groups in the US, and East London Genes and Health focuses on people of South Asian origin in London.

And second, to make sure diverse ethnic data resources are widely used by researchers, the challenges of analysing genetic data from ancestrally diverse samples need to be addressed. While there are statistical solutions, more work is needed to make them easy to use and give clear guidance about the best approach.

Understanding how genetic risk and social inequality interact to influence disparities in disease risk and outcomes will be critical to improving public health for all.

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Most genetic studies use only white participants this will lead to greater health inequality - The Conversation UK

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