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    Genetic variant

    Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.

    Webinars

    • JAN 16, 2024 | 8:00 AM
      Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation
      Case studies: Real world examples of how labs can use HGMD Professional...
      The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whet...
      Speaker: Ana Krivokuca, PhD
      Sponsored By: QIAGEN
      35 1
      NOV 30, 2023 | 12:00 PM
      C.E. CREDITS
      Revolutionizing Solid Tumor Management: Unleashing the Potential of Liquid Biopsy
      Revolutionizing Solid Tumor Management: Unleashing the Potential...
      Pathology Perspective: Discover the critical need for genomic testing in cancer and explore the differences between traditional tissue biopsies and liquid genomic profiling. We'll dive i...
      Speaker: Dr. Shuko Harada , Dr. Aakash Desai, MBBS, MPH
      Presented at: Precision Medicine in Solid Tumors
      5
      NOV 16, 2023 | 10:00 AM
      How clinical labs can confidently assess cancer-associated variants with real-world data and expert-curated genomic evidence
      How clinical labs can confidently assess cancer-associated variants...
      Across various stages of the clinical oncology workflow, from panel design to genomic testing and molecular tumor boards, the identification and validation of actionable genomic alterations...
      Speaker: Umadevi Thirumurthi, PhD
      Sponsored By: QIAGEN
      17
      NOV 14, 2023 | 8:00 AM
      High-throughput RNA-Seq of clinical samples using Covaris AFA ultrasonication
      High-throughput RNA-Seq of clinical samples using Covaris AFA...
      RNA-Seq remains a critical and robust methodology in understanding cellular and organismal changes associated with development and disease. Advances in automation have helped reduce the cost...
      Speaker: Madan Ambavaram, Ph.D. , Stuart Levine, Ph.D.
      Sponsored By: Covaris
      12
      OCT 31, 2023 | 9:00 AM
      AAV Gene Therapy: A novel approach to AAV biopanning in human brain
      AAV Gene Therapy: A novel approach to AAV biopanning in human...
      Gene therapy holds potential for treating neurological diseases by delivering genetic information into specific cell types. However, selective and efficient targeting of cell types remains c...
      Speaker: Joshua Ortiz-Guzman, Ph.D.
      Sponsored By: Leica Microsystems
      11
      OCT 30, 2023 | 8:00 PM
      Capillary electrophoresis in cancer research today:
      Capillary electrophoresis in cancer research today:
      Description: Join this two-part webinar to learn how capillary electrophoresis (CE) complements sequencing technologies, such as next generation sequencing, that are being used by cancer res...
      Speaker: Steve Jackson, PhD , Dr. Somak Roy, MD
      Sponsored By: Thermo Fisher Scientific
      11
      OCT 26, 2023 | 8:00 AM
      Capillary electrophoresis in cancer research today:
      Capillary electrophoresis in cancer research today:
      Description: Join this two-part webinar to learn when capillary electrophoresis is an ideal choice relative to other various sequencing technologies – such as next generation sequencin...
      Speaker: Steve Jackson, PhD , Dr. Somak Roy, MD
      Sponsored By: Thermo Fisher Scientific
      23
      OCT 24, 2023 | 9:00 AM
      Introducing a streamlined solution to capture superior multiomic information at single-base resolution from limited DNA
      Introducing a streamlined solution to capture superior multiomic...
      DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology in health and disease. The interaction of genetics with th...
      Speaker: Páidí Creed, Ph.D. , Nick Harding, Ph.D.
      Sponsored By: biomodal
      9
      SEP 07, 2023 | 8:00 AM
      Quest Diagnostics with Covaris launches automated NGS platform, optimizing workflows to maximize lab economics
      Quest Diagnostics with Covaris launches automated NGS platform,...
      Advancements in Next Generation Sequencing (NGS) are changing the genomics industry, favoring those with scale. Quest Diagnostics' clinical expertise, combined with our infrastructure, p...
      Speaker: Ryan Serra, BSc. and Ph.D. , Matthew Gallen, MPH , Sameer Vasantgadkar
      Sponsored By: Covaris, Inc.
      12
      JUL 26, 2023 | 12:15 PM
      Advancing Protein Stabilization Therapeutic Development and DUBTAC Drug Discovery through Gene and Cell Engineering
      Advancing Protein Stabilization Therapeutic Development and DUBTAC...
      Genetically modified cell models accelerate the development of safe and effective therapeutics, making them indispensable in the quest for new drugs. Through manipulation of cell line geneti...
      Speaker: Dr. Yongli Shan
      Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
      4
      JUN 15, 2023 | 7:00 AM
      Early ctDNA Molecular Response Enhanced Through Integrated Analyses of Cell-Free DNA and Matched White Blood Cells
      Early ctDNA Molecular Response Enhanced Through Integrated Analyses...
      Liquid biopsies represent a transformation in the management of cancer as they have the potential to detect, characterize, and monitor cancers earlier than can be achieved with conventional...
      Speaker: Mark Sausen, PhD , Valsamo Anagnostou, MD, PhD
      Sponsored By: Labcorp Oncology
      11
      APR 20, 2023 | 7:00 AM
      Predicting, tracking, and controlling diseases and epidemics to prevent new epidemics and pandemics that can be amplified by climate change
      Predicting, tracking, and controlling diseases and epidemics to...
      Date: April 20, 2023 Time: 7:00am (PDT), 10:00am (EDT), 4:00pm (CEST) A recent systematic review found that more than half of known infectious diseases will be aggravated by climate hazards,...
      Speaker: Prof. Tulio de Oliveira, BSc, MSc, Ph.D. , Mary Rodgers, PhD
      Sponsored By: Abbott
      22
      MAR 30, 2023 | 1:50 PM
      Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience with the Oncomine Comprehensive Assay Plus on the Genexus™ System
      Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience...
      Clinical laboratories worldwide are implementing various targeted panels to identify cancer genomic variants and ultimately improve patient outcomes. As most of the panels and NGS platforms ...
      Speaker: Dr. Bin Wang
      Presented at: OncomineWorld 2024: A Virtual NGS Education Meeting
      0
      MAR 30, 2023 | 1:50 PM
      Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience with the Oncomine Comprehensive Assay Plus on the Genexus™ System
      Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience...
      Clinical laboratories worldwide are implementing various targeted panels to identify cancer genomic variants and ultimately improve patient outcomes. As most of the panels and NGS platforms...
      Speaker: Dr. Bin Wang
      Presented at: OncomineWorld 2023: A Virtual NGS Education Meeting
      3
      MAR 23, 2023 | 8:00 AM
      Variant interpretation, literature curation, and clinical trials, oh my! How to simplify somatic NGS analysis & reduce literature review time by 90% with HSMD
      Variant interpretation, literature curation, and clinical trials,...
      Date: March 23, 2023 Time: 8:00am (PDT), 11:00am (EDT), 8:00pm (CEST) Across clinical oncology applications, from molecular testing to cancer research the ability to identify potentially act...
      Speaker: Chelsea Alexander, MS, CGC , Aarthi Goverdhan, PhD
      Sponsored By: QIAGEN
      10
      FEB 22, 2023 | 5:30 AM
      Current Use of GPCR Pharmacogenomics in Clinical Practice
      Current Use of GPCR Pharmacogenomics in Clinical Practice
      G Protein Coupled Receptors (GPCRs) are therapeutic targets for many medications used to treat a variety of disease states. A large number of genetic variants have been identified in the gen...
      Speaker: Helen E. Smith, PhD
      Presented at: Drug Discovery & Development Virtual Event Series 2023
      1
      SEP 07, 2022 | 12:00 PM
      A Universal "Day Zero" Infectious Disease Testing Strategy Exploiting CRISPR-based Sample Depletion and Metagenomic Sequencing with Live Q&A
      A Universal "Day Zero" Infectious Disease Testing Strategy Exploiting...
      The lack of preparedness for detecting the highly infectious SARS-CoV-2 pathogen, the pathogen responsible for the COVID-19 disease, has caused enormous harm to public health and the economy...
      Speaker: Jon Armstrong, MSc
      Presented at: Microbiology Week Virtual Event Series 2022
      Sponsored By: Jumpcode Genomics
      5
      JUN 02, 2022 | 8:00 AM
      Human vs. AI: Why manual curation is irreplaceable in clinical genomics
      Human vs. AI: Why manual curation is irreplaceable in clinical...
      Date: June 02, 2022 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Artificial intelligence (AI) is currently a buzzword across almost all scientific disciplines and has the potential to re...
      Speaker: Araceli Cuellar, Ph.D.
      Sponsored By: QIAGEN
      12
      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 07, 2021 | 10:00 AM
      An overview of a novel RNAscope™ in situ hybridization technology, and applications in pathology of animal models
      An overview of a novel RNAscope™ in situ hybridization technology,...
      Date: December 07, 2021 Time: 10:00am (PST) The RNAscope™ technology allows high sensitivity and spatial resolution providing pivotal single-cell information to gain better insights in...
      Speaker: Anushka Dikshit, PhD , Sebastien Monette
      Sponsored By: ACD, a Bio-Techne brand
      1
      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 | 3:00 PM
      Recent Developments in the SARS-CoV-2 Landscape, and Testing Strategies to Address this Constantly Evolving Field
      Recent Developments in the SARS-CoV-2 Landscape, and Testing Strategies...
      This workshop will focus on the emerging variants and the diagnostic and surveillance strategies (genotyping assays complementing sequencing) for this, as well as the impending COVID-Flu int...
      Speaker: Manoj Gandhi, MD, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
      Sponsored By: Thermo Fisher Scientific
      2
    JAN 16, 2024 | 8:00 AM
    Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in variant interpretation
    Case studies: Real world examples of how labs can use HGMD Professional...
    The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whet...
    Speaker: Ana Krivokuca, PhD
    Sponsored By: QIAGEN
    35 1
    NOV 30, 2023 | 12:00 PM
    C.E. CREDITS
    Revolutionizing Solid Tumor Management: Unleashing the Potential of Liquid Biopsy
    Revolutionizing Solid Tumor Management: Unleashing the Potential...
    Pathology Perspective: Discover the critical need for genomic testing in cancer and explore the differences between traditional tissue biopsies and liquid genomic profiling. We'll dive i...
    Speaker: Dr. Shuko Harada , Dr. Aakash Desai, MBBS, MPH
    Presented at: Precision Medicine in Solid Tumors
    5
    NOV 16, 2023 | 10:00 AM
    How clinical labs can confidently assess cancer-associated variants with real-world data and expert-curated genomic evidence
    How clinical labs can confidently assess cancer-associated variants...
    Across various stages of the clinical oncology workflow, from panel design to genomic testing and molecular tumor boards, the identification and validation of actionable genomic alterations...
    Speaker: Umadevi Thirumurthi, PhD
    Sponsored By: QIAGEN
    17
    NOV 14, 2023 | 8:00 AM
    High-throughput RNA-Seq of clinical samples using Covaris AFA ultrasonication
    High-throughput RNA-Seq of clinical samples using Covaris AFA...
    RNA-Seq remains a critical and robust methodology in understanding cellular and organismal changes associated with development and disease. Advances in automation have helped reduce the cost...
    Speaker: Madan Ambavaram, Ph.D. , Stuart Levine, Ph.D.
    Sponsored By: Covaris
    12
    OCT 31, 2023 | 9:00 AM
    AAV Gene Therapy: A novel approach to AAV biopanning in human brain
    AAV Gene Therapy: A novel approach to AAV biopanning in human...
    Gene therapy holds potential for treating neurological diseases by delivering genetic information into specific cell types. However, selective and efficient targeting of cell types remains c...
    Speaker: Joshua Ortiz-Guzman, Ph.D.
    Sponsored By: Leica Microsystems
    11
     
     
  • OCT 30, 2023 | 8:00 PM
    Capillary electrophoresis in cancer research today:
    Capillary electrophoresis in cancer research today:
    Description: Join this two-part webinar to learn how capillary electrophoresis (CE) complements sequencing technologies, such as next generation sequencing, that are being used by cancer res...
    Speaker: Steve Jackson, PhD , Dr. Somak Roy, MD
    Sponsored By: Thermo Fisher Scientific
    11
    OCT 26, 2023 | 8:00 AM
    Capillary electrophoresis in cancer research today:
    Capillary electrophoresis in cancer research today:
    Description: Join this two-part webinar to learn when capillary electrophoresis is an ideal choice relative to other various sequencing technologies – such as next generation sequencin...
    Speaker: Steve Jackson, PhD , Dr. Somak Roy, MD
    Sponsored By: Thermo Fisher Scientific
    23
    OCT 24, 2023 | 9:00 AM
    Introducing a streamlined solution to capture superior multiomic information at single-base resolution from limited DNA
    Introducing a streamlined solution to capture superior multiomic...
    DNA comprises molecular information stored in genetic and epigenetic bases, both of which are vital to our understanding of biology in health and disease. The interaction of genetics with th...
    Speaker: Páidí Creed, Ph.D. , Nick Harding, Ph.D.
    Sponsored By: biomodal
    9
    SEP 07, 2023 | 8:00 AM
    Quest Diagnostics with Covaris launches automated NGS platform, optimizing workflows to maximize lab economics
    Quest Diagnostics with Covaris launches automated NGS platform,...
    Advancements in Next Generation Sequencing (NGS) are changing the genomics industry, favoring those with scale. Quest Diagnostics' clinical expertise, combined with our infrastructure, p...
    Speaker: Ryan Serra, BSc. and Ph.D. , Matthew Gallen, MPH , Sameer Vasantgadkar
    Sponsored By: Covaris, Inc.
    12
    JUL 26, 2023 | 12:15 PM
    Advancing Protein Stabilization Therapeutic Development and DUBTAC Drug Discovery through Gene and Cell Engineering
    Advancing Protein Stabilization Therapeutic Development and DUBTAC...
    Genetically modified cell models accelerate the development of safe and effective therapeutics, making them indispensable in the quest for new drugs. Through manipulation of cell line geneti...
    Speaker: Dr. Yongli Shan
    Presented at: GenScript 3rd Annual Gene and Cell Engineering Summit
    4
     
     
  • JUN 15, 2023 | 7:00 AM
    Early ctDNA Molecular Response Enhanced Through Integrated Analyses of Cell-Free DNA and Matched White Blood Cells
    Early ctDNA Molecular Response Enhanced Through Integrated Analyses...
    Liquid biopsies represent a transformation in the management of cancer as they have the potential to detect, characterize, and monitor cancers earlier than can be achieved with conventional...
    Speaker: Mark Sausen, PhD , Valsamo Anagnostou, MD, PhD
    Sponsored By: Labcorp Oncology
    11
    APR 20, 2023 | 7:00 AM
    Predicting, tracking, and controlling diseases and epidemics to prevent new epidemics and pandemics that can be amplified by climate change
    Predicting, tracking, and controlling diseases and epidemics to...
    Date: April 20, 2023 Time: 7:00am (PDT), 10:00am (EDT), 4:00pm (CEST) A recent systematic review found that more than half of known infectious diseases will be aggravated by climate hazards,...
    Speaker: Prof. Tulio de Oliveira, BSc, MSc, Ph.D. , Mary Rodgers, PhD
    Sponsored By: Abbott
    22
    MAR 30, 2023 | 1:50 PM
    Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience with the Oncomine Comprehensive Assay Plus on the Genexus™ System
    Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience...
    Clinical laboratories worldwide are implementing various targeted panels to identify cancer genomic variants and ultimately improve patient outcomes. As most of the panels and NGS platforms ...
    Speaker: Dr. Bin Wang
    Presented at: OncomineWorld 2024: A Virtual NGS Education Meeting
    0
    MAR 30, 2023 | 1:50 PM
    Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience with the Oncomine Comprehensive Assay Plus on the Genexus™ System
    Evaluation of the Oncomine™ Comprehensive Assay v3 and early experience...
    Clinical laboratories worldwide are implementing various targeted panels to identify cancer genomic variants and ultimately improve patient outcomes. As most of the panels and NGS platforms...
    Speaker: Dr. Bin Wang
    Presented at: OncomineWorld 2023: A Virtual NGS Education Meeting
    3
    MAR 23, 2023 | 8:00 AM
    Variant interpretation, literature curation, and clinical trials, oh my! How to simplify somatic NGS analysis & reduce literature review time by 90% with HSMD
    Variant interpretation, literature curation, and clinical trials,...
    Date: March 23, 2023 Time: 8:00am (PDT), 11:00am (EDT), 8:00pm (CEST) Across clinical oncology applications, from molecular testing to cancer research the ability to identify potentially act...
    Speaker: Chelsea Alexander, MS, CGC , Aarthi Goverdhan, PhD
    Sponsored By: QIAGEN
    10
     
     
  • FEB 22, 2023 | 5:30 AM
    Current Use of GPCR Pharmacogenomics in Clinical Practice
    Current Use of GPCR Pharmacogenomics in Clinical Practice
    G Protein Coupled Receptors (GPCRs) are therapeutic targets for many medications used to treat a variety of disease states. A large number of genetic variants have been identified in the gen...
    Speaker: Helen E. Smith, PhD
    Presented at: Drug Discovery & Development Virtual Event Series 2023
    1
    SEP 07, 2022 | 12:00 PM
    A Universal "Day Zero" Infectious Disease Testing Strategy Exploiting CRISPR-based Sample Depletion and Metagenomic Sequencing with Live Q&A
    A Universal "Day Zero" Infectious Disease Testing Strategy Exploiting...
    The lack of preparedness for detecting the highly infectious SARS-CoV-2 pathogen, the pathogen responsible for the COVID-19 disease, has caused enormous harm to public health and the economy...
    Speaker: Jon Armstrong, MSc
    Presented at: Microbiology Week Virtual Event Series 2022
    Sponsored By: Jumpcode Genomics
    5
    JUN 02, 2022 | 8:00 AM
    Human vs. AI: Why manual curation is irreplaceable in clinical genomics
    Human vs. AI: Why manual curation is irreplaceable in clinical...
    Date: June 02, 2022 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Artificial intelligence (AI) is currently a buzzword across almost all scientific disciplines and has the potential to re...
    Speaker: Araceli Cuellar, Ph.D.
    Sponsored By: QIAGEN
    12
    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 07, 2021 | 10:00 AM
    An overview of a novel RNAscope™ in situ hybridization technology, and applications in pathology of animal models
    An overview of a novel RNAscope™ in situ hybridization technology,...
    Date: December 07, 2021 Time: 10:00am (PST) The RNAscope™ technology allows high sensitivity and spatial resolution providing pivotal single-cell information to gain better insights in...
    Speaker: Anushka Dikshit, PhD , Sebastien Monette
    Sponsored By: ACD, a Bio-Techne brand
    1
    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 | 3:00 PM
    Recent Developments in the SARS-CoV-2 Landscape, and Testing Strategies to Address this Constantly Evolving Field
    Recent Developments in the SARS-CoV-2 Landscape, and Testing Strategies...
    This workshop will focus on the emerging variants and the diagnostic and surveillance strategies (genotyping assays complementing sequencing) for this, as well as the impending COVID-Flu int...
    Speaker: Manoj Gandhi, MD, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2021
    Sponsored By: Thermo Fisher Scientific
    2
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