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    Genetic Disease

    Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.

    Webinars

    • MAY 05, 2022 | 8:00 AM
      Solve Every Hereditary Disorder Case for All Types of Genetic Variation
      Solve Every Hereditary Disorder Case for All Types of Genetic...
      Date: May 5, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CET) Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging...
      Speaker: Georgios Stamoulis, Ph.D.
      Sponsored By: QIAGEN
      7
      FEB 23, 2022 | 11:55 PM
      Personalised Medicine Through GPCR Pharmacogenomics
      Personalised Medicine Through GPCR Pharmacogenomics
      The explosion of biomedical data such as in genomics, structure biology and pharmacology can provide new opportunities to improve our understanding of human physiology and disease. Understan...
      Speaker: Alexander Sebastian Hauser, PhD
      Presented at: Drug Discovery & Development Virtual Event Series 2022
      5
      DEC 14, 2021 | 6:00 AM
      Hepatitis E virus: the need for improved testing
      Hepatitis E virus: the need for improved testing
      Date: December 14, 2021 Time: 6:00am (PST), 9:00am (EST) Hepatitis E virus (HEV) is a single-stranded positive-sense RNA virus and is a leading cause of acute viral hepatitis worldwide. The...
      Speaker: Florence Abravanel , Jacques Izopet
      Sponsored By: Diasorin
      16 1
      DEC 09, 2021 | 11:00 AM
      Surveillance and AI-Powered Prediction of AMR to Inform Antibiotic Therapy
      Surveillance and AI-Powered Prediction of AMR to Inform Antibiotic...
      Date: December 09, 2021 Time: 11:00am (PDT), 2:00pm (EDT) The burden of antimicrobial resistance (AMR) has been acknowledged worldwide by leading health institutes. Besides the need for new...
      Speaker: Dr. Arne Materna
      Sponsored By: OpGen
      7
      DEC 09, 2021 | 8:00 AM
      Reprogramming human regulatory T cell specificity with a novel anti-HLA-A2 chimeric antigen receptor
      Reprogramming human regulatory T cell specificity with a novel...
      Date: December 9, 2021 Time: 8:00am (PDT), 11:00am (EDT) Engineering human regulatory T cells (Tregs) with a chimeric antigen receptor (CAR) targeting donorderived human leukocyte antigen (H...
      Speaker: Leonardo Ferreira
      Sponsored By: Thermo Fisher Scientific/Gibco
      5
      DEC 07, 2021 | 9:00 AM
      Enhanced ACE2 humanized rodent models to make COVID-19 research more translatable
      Enhanced ACE2 humanized rodent models to make COVID-19 research...
      Date: December 7, 2021 Time: 9:00am (PST), 12:00pm (EST) The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has infected more than...
      Speaker: Justin Zhao, PhD
      Sponsored By: Envigo
      4 1
      DEC 01, 2021 | 9:00 AM
      The Art and Science of Haematology Morphology: RBC Morphology
      The Art and Science of Haematology Morphology: RBC Morphology
      Date: December 1, 2021 Time: 9:00am (PDT), 12:00pm (EDT) The enumeration and analysis of blood cells with automated haematology analysers have significantly improved in recent years due to a...
      Speaker: Daniel Pelling, CSci, FIBMS, DFM
      Sponsored By: Abbott
      32
      NOV 17, 2021 | 8:00 AM
      Exosomes: From pure isolation to standardized analysis by flow cytometry
      Exosomes: From pure isolation to standardized analysis by flow...
      Date: November 17, 2021 Time: 8:00am (PDT), 11:00am (EDT) From waste disposal to promising biomarkers and therapeutic agents, exosomes and other extracellular vesicles are valuable in resear...
      Speaker: Ariadna Pascual Velazquez , Laura Müller , Stefan Wild, PhD
      Sponsored By: Miltenyi Biotec
      9
      NOV 15, 2021 | 6:00 AM
      Fully automated RNA library preparation for sequencing respiratory viruses
      Fully automated RNA library preparation for sequencing respiratory...
      Date: November 15, 2021 Time: 6:00am (PDT), 9:00am (EDT) Targeted sequencing of respiratory viruses’ genomes is important to identify novel viral variants. Compared to amplicon sequenc...
      Speaker: Dr. Tomasz Zemojtel , Randy Pares
      Sponsored By: Beckman Coulter Life Sciences
      6
      NOV 10, 2021 | 11:59 PM
      Size Selection of Cell-free DNA Increases the Proportion of Tumor Specific Variants in Cancer Patients
      Size Selection of Cell-free DNA Increases the Proportion of Tumor...
      The proportion of cell-free DNA (cfDNA) derived from tumor cells in the plasma of patients with cancer is typically less than 2%. To overcome this limitation, methods have been developed to...
      Speaker: Kimberly Holden
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
      4
      NOV 10, 2021 | 1:30 PM
      Advancements in UTI Testing: A Multi-omics Approach
      Advancements in UTI Testing: A Multi-omics Approach
      While clinical microbiology laboratories are pivotal in the identification and handling of infectious diseases, the microbiology lab environment is rapidly changing. Conventional testing met...
      Speaker: David Baunoch, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
      Sponsored By: Thermo Fisher Scientific
      3
      NOV 10, 2021 | 10:00 AM
      Latest technologies in antibody and protein labeling
      Latest technologies in antibody and protein labeling
      Date: November 10, 2021 Time: 10:00am PST Conjugated antibodies and proteins are some of the most powerful and commonly used probes currently used in life sciences research. Understanding th...
      Speaker: Douglas Anderson
      Sponsored By: Thermo Fisher Scientific
      11
      NOV 10, 2021 | 7:30 AM
      Panel Presentation: Overcoming Challenges of Copy Number Variant Interpretation with QCI Interpret and the ACMG Guidelines for CNVs
      Panel Presentation: Overcoming Challenges of Copy Number Variant...
      Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can r...
      Speaker: Dan Richards, PhD , Martin Jones, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      NOV 08, 2021 | 8:00 AM
      Learn how to maximize KingFisher instruments to automate DNA, RNA, proteins & cells for all applications
      Learn how to maximize KingFisher instruments to automate DNA,...
      Date: November 8, 2021 Time: 8:00am (PDT), 11:00am (EDT) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
      Speaker: Ketil Pedersen, Ph.D , Emily Zeringer , Suraj Patel, Ph.D.
      Sponsored By: Thermo Fisher Scientific
      9
      NOV 02, 2021 | 7:00 AM
      LiquidArray® technology for TB / Mycobacteria diagnostics and beyond
      LiquidArray® technology for TB / Mycobacteria diagnostics and...
      Date: November 2, 2021 Time: 7:00am (PDT), 10:00am (EDT) Tuberculosis and nontuberculous mycobacteria are an alarming and ongoing global issue which requires fast and innovative diagn...
      Speaker: Sandra Burrack-Lange, PhD
      Sponsored By: Bruker Microbiology & Infection Diagnostics
      9
      OCT 28, 2021 | 9:00 AM
      RT-LAMP: Best practices and tips to accelerate detection of viral pathogens, including SARS-CoV-2
      RT-LAMP: Best practices and tips to accelerate detection of viral...
      Date: October 28, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Loop-mediated isothermal amplification (LAMP) uses a stand-displacing DNA polymerase and four to six primers to rapidly amplify DNA a...
      Speaker: Ingrida Vendelė, PhD , Leann Buhrow, PhD
      Sponsored By: Thermo Fisher Scientific
      11
      OCT 26, 2021 | 11:00 AM
      Constructing a Spatially Resolved Single-cell Atlas of the Mouse Retina with the MERSCOPE Platform
      Constructing a Spatially Resolved Single-cell Atlas of the Mouse...
      Date: October 26, 2021 Time: 11:00am (PDT), 1:00pm (EDT) The retina is the light-sensing part of the visual system and is composed of six neuron types and several non-neuronal cell types, wi...
      Speaker: Rui Chen, B.S., Ph.D.
      Sponsored By: Vizgen
      5
      OCT 26, 2021 | 9:00 AM
      Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
      Hemoglobinopathy Testing: What are the Key Points a Lab Should...
      Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
      Speaker: Dr. Cornelis Harteveld
      Sponsored By: Sebia, Inc.
      19
      OCT 20, 2021 | 1:00 PM
      Utilizing Multidimensional Measurements for Rapid and Confident Omic Analyses
      Utilizing Multidimensional Measurements for Rapid and Confident...
      Upon completion of the human genome project, it was determined that greater than 90% of human diseases are due not solely to a person’s genetics but a combination of genetic factors an...
      Speaker: Erin S. Baker, PhD
      Presented at: Analytical Chemistry & Separation Sciences Virtual Event Series 2021
      0
      OCT 13, 2021 | 1:30 PM
      SARS-CoV-2 Related Workflow and Solutions: Detection and Genotyping​
      SARS-CoV-2 Related Workflow and Solutions: Detection and Genotyping​
      This presentation “SARS-CoV-2 Related Workflow and Solutions: Detection and Genotyping” will focus on strategies for the testing and detection of SARS-CoV-2, including multiplexe...
      Speaker: Manohar R. Furtado, PhD
      Presented at: Coronavirus Series
      Sponsored By: Thermo Fisher Scientific
      14
      OCT 07, 2021 | 1:30 PM
      Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge to Annotate Variants and Assess Prevalence: Introducing a New Somatic Database-Our Best Kept Secret
      Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge...
      Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clini...
      Speaker: Beate Litzenburger, Ph.D.
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      0
      OCT 06, 2021 | 11:55 PM
      Using Networks to Understand Cancer Risk and Therapies
      Using Networks to Understand Cancer Risk and Therapies
      One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human g...
      Speaker: John Quackenbush, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
      1
      OCT 06, 2021 | 6:00 AM
      COSMIC: Describing Millions of Somatic Mutations at High Resolution Across Every Form of Cancer Underpins Precision Oncology Research
      COSMIC: Describing Millions of Somatic Mutations at High Resolution...
      COSMIC is the world’s largest and most comprehensive somatic mutations resource. COSMIC’s contents are manually curated by PhD-level experts from high-quality scientific literatu...
      Speaker: Simon Forbes, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      1
      OCT 05, 2021 | 7:00 AM
      Resolving Challenges in Flow Cytometry Panel Design
      Resolving Challenges in Flow Cytometry Panel Design
      Date: October 05, 2021 Time: 7:00am (PDT), 10:00am (EDT) After new users become familiar with flow cytometry instrumentation and learn how to set up the instrument and acquire data, the next...
      Speaker: Michael Kapinsky, PhD , Matthew Goff
      Sponsored By: Beckman Coulter Life Sciences
      13 1
    MAY 05, 2022 | 8:00 AM
    Solve Every Hereditary Disorder Case for All Types of Genetic Variation
    Solve Every Hereditary Disorder Case for All Types of Genetic...
    Date: May 5, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CET) Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging...
    Speaker: Georgios Stamoulis, Ph.D.
    Sponsored By: QIAGEN
    7
    FEB 23, 2022 | 11:55 PM
    Personalised Medicine Through GPCR Pharmacogenomics
    Personalised Medicine Through GPCR Pharmacogenomics
    The explosion of biomedical data such as in genomics, structure biology and pharmacology can provide new opportunities to improve our understanding of human physiology and disease. Understan...
    Speaker: Alexander Sebastian Hauser, PhD
    Presented at: Drug Discovery & Development Virtual Event Series 2022
    5
    DEC 14, 2021 | 6:00 AM
    Hepatitis E virus: the need for improved testing
    Hepatitis E virus: the need for improved testing
    Date: December 14, 2021 Time: 6:00am (PST), 9:00am (EST) Hepatitis E virus (HEV) is a single-stranded positive-sense RNA virus and is a leading cause of acute viral hepatitis worldwide. The...
    Speaker: Florence Abravanel , Jacques Izopet
    Sponsored By: Diasorin
    16 1
    DEC 09, 2021 | 11:00 AM
    Surveillance and AI-Powered Prediction of AMR to Inform Antibiotic Therapy
    Surveillance and AI-Powered Prediction of AMR to Inform Antibiotic...
    Date: December 09, 2021 Time: 11:00am (PDT), 2:00pm (EDT) The burden of antimicrobial resistance (AMR) has been acknowledged worldwide by leading health institutes. Besides the need for new...
    Speaker: Dr. Arne Materna
    Sponsored By: OpGen
    7
    DEC 09, 2021 | 8:00 AM
    Reprogramming human regulatory T cell specificity with a novel anti-HLA-A2 chimeric antigen receptor
    Reprogramming human regulatory T cell specificity with a novel...
    Date: December 9, 2021 Time: 8:00am (PDT), 11:00am (EDT) Engineering human regulatory T cells (Tregs) with a chimeric antigen receptor (CAR) targeting donorderived human leukocyte antigen (H...
    Speaker: Leonardo Ferreira
    Sponsored By: Thermo Fisher Scientific/Gibco
    5
     
     
  • DEC 07, 2021 | 9:00 AM
    Enhanced ACE2 humanized rodent models to make COVID-19 research more translatable
    Enhanced ACE2 humanized rodent models to make COVID-19 research...
    Date: December 7, 2021 Time: 9:00am (PST), 12:00pm (EST) The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has infected more than...
    Speaker: Justin Zhao, PhD
    Sponsored By: Envigo
    4 1
    DEC 01, 2021 | 9:00 AM
    The Art and Science of Haematology Morphology: RBC Morphology
    The Art and Science of Haematology Morphology: RBC Morphology
    Date: December 1, 2021 Time: 9:00am (PDT), 12:00pm (EDT) The enumeration and analysis of blood cells with automated haematology analysers have significantly improved in recent years due to a...
    Speaker: Daniel Pelling, CSci, FIBMS, DFM
    Sponsored By: Abbott
    32
    NOV 17, 2021 | 8:00 AM
    Exosomes: From pure isolation to standardized analysis by flow cytometry
    Exosomes: From pure isolation to standardized analysis by flow...
    Date: November 17, 2021 Time: 8:00am (PDT), 11:00am (EDT) From waste disposal to promising biomarkers and therapeutic agents, exosomes and other extracellular vesicles are valuable in resear...
    Speaker: Ariadna Pascual Velazquez , Laura Müller , Stefan Wild, PhD
    Sponsored By: Miltenyi Biotec
    9
    NOV 15, 2021 | 6:00 AM
    Fully automated RNA library preparation for sequencing respiratory viruses
    Fully automated RNA library preparation for sequencing respiratory...
    Date: November 15, 2021 Time: 6:00am (PDT), 9:00am (EDT) Targeted sequencing of respiratory viruses’ genomes is important to identify novel viral variants. Compared to amplicon sequenc...
    Speaker: Dr. Tomasz Zemojtel , Randy Pares
    Sponsored By: Beckman Coulter Life Sciences
    6
    NOV 10, 2021 | 11:59 PM
    Size Selection of Cell-free DNA Increases the Proportion of Tumor Specific Variants in Cancer Patients
    Size Selection of Cell-free DNA Increases the Proportion of Tumor...
    The proportion of cell-free DNA (cfDNA) derived from tumor cells in the plasma of patients with cancer is typically less than 2%. To overcome this limitation, methods have been developed to...
    Speaker: Kimberly Holden
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
    4
     
     
  • NOV 10, 2021 | 1:30 PM
    Advancements in UTI Testing: A Multi-omics Approach
    Advancements in UTI Testing: A Multi-omics Approach
    While clinical microbiology laboratories are pivotal in the identification and handling of infectious diseases, the microbiology lab environment is rapidly changing. Conventional testing met...
    Speaker: David Baunoch, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
    Sponsored By: Thermo Fisher Scientific
    3
    NOV 10, 2021 | 10:00 AM
    Latest technologies in antibody and protein labeling
    Latest technologies in antibody and protein labeling
    Date: November 10, 2021 Time: 10:00am PST Conjugated antibodies and proteins are some of the most powerful and commonly used probes currently used in life sciences research. Understanding th...
    Speaker: Douglas Anderson
    Sponsored By: Thermo Fisher Scientific
    11
    NOV 10, 2021 | 7:30 AM
    Panel Presentation: Overcoming Challenges of Copy Number Variant Interpretation with QCI Interpret and the ACMG Guidelines for CNVs
    Panel Presentation: Overcoming Challenges of Copy Number Variant...
    Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can r...
    Speaker: Dan Richards, PhD , Martin Jones, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
    NOV 08, 2021 | 8:00 AM
    Learn how to maximize KingFisher instruments to automate DNA, RNA, proteins & cells for all applications
    Learn how to maximize KingFisher instruments to automate DNA,...
    Date: November 8, 2021 Time: 8:00am (PDT), 11:00am (EDT) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
    Speaker: Ketil Pedersen, Ph.D , Emily Zeringer , Suraj Patel, Ph.D.
    Sponsored By: Thermo Fisher Scientific
    9
    NOV 02, 2021 | 7:00 AM
    LiquidArray® technology for TB / Mycobacteria diagnostics and beyond
    LiquidArray® technology for TB / Mycobacteria diagnostics and...
    Date: November 2, 2021 Time: 7:00am (PDT), 10:00am (EDT) Tuberculosis and nontuberculous mycobacteria are an alarming and ongoing global issue which requires fast and innovative diagn...
    Speaker: Sandra Burrack-Lange, PhD
    Sponsored By: Bruker Microbiology & Infection Diagnostics
    9
     
     
  • OCT 28, 2021 | 9:00 AM
    RT-LAMP: Best practices and tips to accelerate detection of viral pathogens, including SARS-CoV-2
    RT-LAMP: Best practices and tips to accelerate detection of viral...
    Date: October 28, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Loop-mediated isothermal amplification (LAMP) uses a stand-displacing DNA polymerase and four to six primers to rapidly amplify DNA a...
    Speaker: Ingrida Vendelė, PhD , Leann Buhrow, PhD
    Sponsored By: Thermo Fisher Scientific
    11
    OCT 26, 2021 | 11:00 AM
    Constructing a Spatially Resolved Single-cell Atlas of the Mouse Retina with the MERSCOPE Platform
    Constructing a Spatially Resolved Single-cell Atlas of the Mouse...
    Date: October 26, 2021 Time: 11:00am (PDT), 1:00pm (EDT) The retina is the light-sensing part of the visual system and is composed of six neuron types and several non-neuronal cell types, wi...
    Speaker: Rui Chen, B.S., Ph.D.
    Sponsored By: Vizgen
    5
    OCT 26, 2021 | 9:00 AM
    Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
    Hemoglobinopathy Testing: What are the Key Points a Lab Should...
    Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
    Speaker: Dr. Cornelis Harteveld
    Sponsored By: Sebia, Inc.
    19
    OCT 20, 2021 | 1:00 PM
    Utilizing Multidimensional Measurements for Rapid and Confident Omic Analyses
    Utilizing Multidimensional Measurements for Rapid and Confident...
    Upon completion of the human genome project, it was determined that greater than 90% of human diseases are due not solely to a person’s genetics but a combination of genetic factors an...
    Speaker: Erin S. Baker, PhD
    Presented at: Analytical Chemistry & Separation Sciences Virtual Event Series 2021
    0
    OCT 13, 2021 | 1:30 PM
    SARS-CoV-2 Related Workflow and Solutions: Detection and Genotyping​
    SARS-CoV-2 Related Workflow and Solutions: Detection and Genotyping​
    This presentation “SARS-CoV-2 Related Workflow and Solutions: Detection and Genotyping” will focus on strategies for the testing and detection of SARS-CoV-2, including multiplexe...
    Speaker: Manohar R. Furtado, PhD
    Presented at: Coronavirus Series
    Sponsored By: Thermo Fisher Scientific
    14
     
     
  • OCT 07, 2021 | 1:30 PM
    Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge to Annotate Variants and Assess Prevalence: Introducing a New Somatic Database-Our Best Kept Secret
    Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge...
    Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clini...
    Speaker: Beate Litzenburger, Ph.D.
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    0
    OCT 06, 2021 | 11:55 PM
    Using Networks to Understand Cancer Risk and Therapies
    Using Networks to Understand Cancer Risk and Therapies
    One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human g...
    Speaker: John Quackenbush, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
    1
    OCT 06, 2021 | 6:00 AM
    COSMIC: Describing Millions of Somatic Mutations at High Resolution Across Every Form of Cancer Underpins Precision Oncology Research
    COSMIC: Describing Millions of Somatic Mutations at High Resolution...
    COSMIC is the world’s largest and most comprehensive somatic mutations resource. COSMIC’s contents are manually curated by PhD-level experts from high-quality scientific literatu...
    Speaker: Simon Forbes, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    1
    OCT 05, 2021 | 7:00 AM
    Resolving Challenges in Flow Cytometry Panel Design
    Resolving Challenges in Flow Cytometry Panel Design
    Date: October 05, 2021 Time: 7:00am (PDT), 10:00am (EDT) After new users become familiar with flow cytometry instrumentation and learn how to set up the instrument and acquire data, the next...
    Speaker: Michael Kapinsky, PhD , Matthew Goff
    Sponsored By: Beckman Coulter Life Sciences
    13 1
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