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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

    • JUL 29, 2020 | 9:00 AM
      Implementation of Dried Blood Spots (DBS) for Hepatitis C (HCV) Elimination
      Implementation of Dried Blood Spots (DBS) for Hepatitis C (HCV)...
      July 29, 2020 TIME: 9:00am PDT, 12:009m EDT, 6:00pm CEST Hepatitis C infection, once a formidable enemy, is now a curable disease. Dramatic advances in antiviral therapies have launched a ne...
      Speaker: Elisa Martró - BSc, PhD , Emmanuel Fajardo - MSc , Dr. Tim Meehan - PhD
      Sponsored By: Abbott Global Scientific Affair
      20 1
      JUL 16, 2020 | 10:00 AM
      Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
      Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
      DATE: July 16, 2020 TIME: 10:00 am PDT This seminar reviews clinical utility of adopting rapid IDH1/2 testing in both hematological and solid tumors and describes the adjusted workflow devel...
      Speaker: Sarah Herlihy
      Sponsored By: Abbott Molecular Diagnostic
      15
      JUL 02, 2020 | 2:00 PM
      Customized Theragen PMRA chip : design history and application examples
      Customized Theragen PMRA chip : design history and application...
      Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
      Speaker: Kyung-Won Hong, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 02, 2020 | 1:30 PM
      Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
      Molecular Diagnosis of Genetic Diseases using CE in an era of...
      Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
      Speaker: Ashwin Dalal, MD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      3
      JUL 02, 2020 | 12:45 PM
      AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution for Breeding Programs
      AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution...
      Molecular breeding can significantly reduce the cost and time required to deliver improved plant and animal species for agricultural use. Advancements in genomic technologies are acceleratin...
      Speaker: Srinivas Chadaram, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUN 26, 2020 | 8:00 AM
      Next-Generation Cytogenetics: international, multi-center study of chromosomal aberrations in constitutional diseases and leukemia with Bionano genome imaging
      Next-Generation Cytogenetics: international, multi-center study...
      DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
      Speaker: Alexander Hoischen , Laila El Khattabi
      Sponsored By: Bionano
      16
      JUN 17, 2020 | 7:30 AM
      Advanced solutions for viral detection and immune monitoring
      Advanced solutions for viral detection and immune monitoring
      Severe COVID-19 is characterized by dramatic immune system activation and inflammation. Several studies to modulate the immune response and limit immunopathology are ongoing. To better under...
      Speaker: Joel Guthridge, PhD , Petter Brodin, MD, PhD
      Presented at: Coronavirus Series
      Sponsored By: Standard BioTools
      1
      JUN 12, 2020 | 8:00 AM
      Genome imaging of head and neck solid tumors: oropharyngeal, tongue, and thyroid cancers
      Genome imaging of head and neck solid tumors: oropharyngeal, tongue,...
      DATE: June 12, 2020 TIME: 08:00 am PDT, 11:00 am EDT Whole genome imaging using the Saphyr instrument from Bionano detects structural variants (SVs), such as insertions, deletions,...
      Speaker: Brandon LaBarge
      Sponsored By: Bionano
      21
      MAY 20, 2020 | 12:00 AM
      Comprehensive Genomic Association Data for Genetic Variant Interpretation: A Computational Approach
      Comprehensive Genomic Association Data for Genetic Variant Interpretation:...
      Design and interpretation of genome sequencing assays and data in both clinical diagnostics and research labs is complicated by an inability to identify information from the medical literatu...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
      1
      MAY 14, 2020 | 5:40 PM
      First experience with the Ion Torrent Genexus Workflow
      First experience with the Ion Torrent Genexus Workflow
      Operational barriers like complicated workflows and long turnaround times have hindered broad adoption of next-generation sequencing (NGS) in clinical oncology research. The new Ion Torrent...
      Speaker: Dr. Kojo Elenitoba-Johnson
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      6
      MAY 14, 2020 | 5:40 PM
      First experience with the Ion Torrent Genexus Workflow
      First experience with the Ion Torrent Genexus Workflow
      Learning Objectives: 1. Participants will become familiar with basic aspects of the user experience with the Genexus system 2. Participants will learn about preliminary studies using a targe...
      Speaker: Dr. Kojo Elenitoba-Johnson
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 14, 2020 | 5:00 PM
      Molecular Profiling for Treatment Guidance of Hematologic Malignancies by Next Generation Sequencing
      Molecular Profiling for Treatment Guidance of Hematologic Malignancies...
      Next-generation sequencing (NGS) has become the most effective tool in the practice of clinical oncology. The technology allows for rapid detection of variants in DNA/RNA simultaneously in a...
      Speaker: Xia Li, Ph.D., DABMGG, CG(ASCP), FACMG
      Presented at: OncomineWorld 2021: A virtual NGS education meeting
      0
      MAY 14, 2020 | 5:00 PM
      Molecular Profiling for Treatment Guidance of Hematologic Malignancies by Next Generation Sequencing
      Molecular Profiling for Treatment Guidance of Hematologic Malignancies...
      Next-generation sequencing (NGS) has become the most effective tool in the practice of clinical oncology. The technology allows for rapid detection of variants in DNA/RNA simultaneously in a...
      Speaker: Xia Li, Ph.D., DABMGG, CG(ASCP), FACMG
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      13
      MAY 14, 2020 | 1:25 PM
      Test Validation in Medical Laboratories: the Australian Perspective
      Test Validation in Medical Laboratories: the Australian Perspective
      My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
      Speaker: Luke Hesson, PhD, FFScRCPA
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      7
      MAY 14, 2020 | 1:25 PM
      NATA Accreditation of Next Generation Sequencing for CDx Testing
      NATA Accreditation of Next Generation Sequencing for CDx Testing
      ...
      Speaker: Luke Hesson, PhD, FFScRCPA
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      6
      MAY 14, 2020 | 1:25 PM
      Test Validation in Medical Laboratories: the Australian Perspective
      Test Validation in Medical Laboratories: the Australian Perspective
      My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
      Speaker: Luke Hesson, PhD, FFScRCPA
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      5
      MAY 14, 2020 | 1:25 PM
      NATA Accreditation of Next Generation Sequencing for CDx Testing
      NATA Accreditation of Next Generation Sequencing for CDx Testing
      ...
      Speaker: Luke Hesson, PhD, FFScRCPA
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      APR 24, 2020 | 8:00 AM
      Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide Structural Variant Analysis
      Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide...
      DATE: April 24, 2020 TIME: 8:00am PT, 11:00am ET, 5:00pm CET...
      Speaker: Ben Clifford, PhD , Sven Bocklandt, PhD
      Sponsored By: Bionano
      11
      APR 22, 2020 | 12:00 AM
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
      The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
      Speaker: Ben Liesfeld, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Long-range technologies resolve complex genomic regions overlooked by short-read sequencing
      Long-range technologies resolve complex genomic regions overlooked...
      Complex genomes, including the human genome, contain ‘dark’ regions that standard short-read sequencing technologies do not adequately resolve—overlooking many variants tha...
      Speaker: Mark Ebbert, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 PM
      SNVs to Large Structural Variation: Capturing nucleotide through inter-chromosomal variants through a powerful three-dimensional data type
      SNVs to Large Structural Variation: Capturing nucleotide through...
      Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
      Speaker: Cory Padilla, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 5:30 AM
      PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants
      PRINCESS: A Framework for Comprehensive Detection and Haplotype...
      Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Singl...
      Speaker: Medhat Mahmoud, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Bionano Genome Imaging: unbiased, genome-wide structural variation detection in genetic disease and cancer, down to 1% allele fraction
      Bionano Genome Imaging: unbiased, genome-wide structural variation...
      Learning Objectives: 1. Learn why the complexity and repetitive structure of the human genome makes it impossible to detect all structural variants using short-read sequencing 2. Learn how h...
      Speaker: Sven Bocklandt, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Contribution of transposons to structural variation and phenotypic diversity in tomato
      Contribution of transposons to structural variation and phenotypic...
      Structural variation within plant genomes has fueled domestication and selection of traits critical for modern breeding of crop plants. Nevertheless, dissecting the diversity of structural v...
      Speaker: Matthias Benoit, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
    JUL 29, 2020 | 9:00 AM
    Implementation of Dried Blood Spots (DBS) for Hepatitis C (HCV) Elimination
    Implementation of Dried Blood Spots (DBS) for Hepatitis C (HCV)...
    July 29, 2020 TIME: 9:00am PDT, 12:009m EDT, 6:00pm CEST Hepatitis C infection, once a formidable enemy, is now a curable disease. Dramatic advances in antiviral therapies have launched a ne...
    Speaker: Elisa Martró - BSc, PhD , Emmanuel Fajardo - MSc , Dr. Tim Meehan - PhD
    Sponsored By: Abbott Global Scientific Affair
    20 1
    JUL 16, 2020 | 10:00 AM
    Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
    Implications of Rapid IDH1/IDH2 Testing for Liquid and Solid Tumors
    DATE: July 16, 2020 TIME: 10:00 am PDT This seminar reviews clinical utility of adopting rapid IDH1/2 testing in both hematological and solid tumors and describes the adjusted workflow devel...
    Speaker: Sarah Herlihy
    Sponsored By: Abbott Molecular Diagnostic
    15
    JUL 02, 2020 | 2:00 PM
    Customized Theragen PMRA chip : design history and application examples
    Customized Theragen PMRA chip : design history and application...
    Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
    Speaker: Kyung-Won Hong, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 02, 2020 | 1:30 PM
    Molecular Diagnosis of Genetic Diseases using CE in an era of different technologies
    Molecular Diagnosis of Genetic Diseases using CE in an era of...
    Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
    Speaker: Ashwin Dalal, MD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    3
    JUL 02, 2020 | 12:45 PM
    AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution for Breeding Programs
    AgriSeqâ„¢ - Fast and Affordable Genotyping by Sequencing Solution...
    Molecular breeding can significantly reduce the cost and time required to deliver improved plant and animal species for agricultural use. Advancements in genomic technologies are acceleratin...
    Speaker: Srinivas Chadaram, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
     
     
  • JUN 26, 2020 | 8:00 AM
    Next-Generation Cytogenetics: international, multi-center study of chromosomal aberrations in constitutional diseases and leukemia with Bionano genome imaging
    Next-Generation Cytogenetics: international, multi-center study...
    DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
    Speaker: Alexander Hoischen , Laila El Khattabi
    Sponsored By: Bionano
    16
    JUN 17, 2020 | 7:30 AM
    Advanced solutions for viral detection and immune monitoring
    Advanced solutions for viral detection and immune monitoring
    Severe COVID-19 is characterized by dramatic immune system activation and inflammation. Several studies to modulate the immune response and limit immunopathology are ongoing. To better under...
    Speaker: Joel Guthridge, PhD , Petter Brodin, MD, PhD
    Presented at: Coronavirus Series
    Sponsored By: Standard BioTools
    1
    JUN 12, 2020 | 8:00 AM
    Genome imaging of head and neck solid tumors: oropharyngeal, tongue, and thyroid cancers
    Genome imaging of head and neck solid tumors: oropharyngeal, tongue,...
    DATE: June 12, 2020 TIME: 08:00 am PDT, 11:00 am EDT Whole genome imaging using the Saphyr instrument from Bionano detects structural variants (SVs), such as insertions, deletions,...
    Speaker: Brandon LaBarge
    Sponsored By: Bionano
    21
    MAY 20, 2020 | 12:00 AM
    Comprehensive Genomic Association Data for Genetic Variant Interpretation: A Computational Approach
    Comprehensive Genomic Association Data for Genetic Variant Interpretation:...
    Design and interpretation of genome sequencing assays and data in both clinical diagnostics and research labs is complicated by an inability to identify information from the medical literatu...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Laboratory Automation & Informatics Virtual Event Series 2020
    1
    MAY 14, 2020 | 5:40 PM
    First experience with the Ion Torrent Genexus Workflow
    First experience with the Ion Torrent Genexus Workflow
    Operational barriers like complicated workflows and long turnaround times have hindered broad adoption of next-generation sequencing (NGS) in clinical oncology research. The new Ion Torrent...
    Speaker: Dr. Kojo Elenitoba-Johnson
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    6
     
     
  • MAY 14, 2020 | 5:40 PM
    First experience with the Ion Torrent Genexus Workflow
    First experience with the Ion Torrent Genexus Workflow
    Learning Objectives: 1. Participants will become familiar with basic aspects of the user experience with the Genexus system 2. Participants will learn about preliminary studies using a targe...
    Speaker: Dr. Kojo Elenitoba-Johnson
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 14, 2020 | 5:00 PM
    Molecular Profiling for Treatment Guidance of Hematologic Malignancies by Next Generation Sequencing
    Molecular Profiling for Treatment Guidance of Hematologic Malignancies...
    Next-generation sequencing (NGS) has become the most effective tool in the practice of clinical oncology. The technology allows for rapid detection of variants in DNA/RNA simultaneously in a...
    Speaker: Xia Li, Ph.D., DABMGG, CG(ASCP), FACMG
    Presented at: OncomineWorld 2021: A virtual NGS education meeting
    0
    MAY 14, 2020 | 5:00 PM
    Molecular Profiling for Treatment Guidance of Hematologic Malignancies by Next Generation Sequencing
    Molecular Profiling for Treatment Guidance of Hematologic Malignancies...
    Next-generation sequencing (NGS) has become the most effective tool in the practice of clinical oncology. The technology allows for rapid detection of variants in DNA/RNA simultaneously in a...
    Speaker: Xia Li, Ph.D., DABMGG, CG(ASCP), FACMG
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    13
    MAY 14, 2020 | 1:25 PM
    Test Validation in Medical Laboratories: the Australian Perspective
    Test Validation in Medical Laboratories: the Australian Perspective
    My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
    Speaker: Luke Hesson, PhD, FFScRCPA
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    7
    MAY 14, 2020 | 1:25 PM
    NATA Accreditation of Next Generation Sequencing for CDx Testing
    NATA Accreditation of Next Generation Sequencing for CDx Testing
    ...
    Speaker: Luke Hesson, PhD, FFScRCPA
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    6
     
     
  • MAY 14, 2020 | 1:25 PM
    Test Validation in Medical Laboratories: the Australian Perspective
    Test Validation in Medical Laboratories: the Australian Perspective
    My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
    Speaker: Luke Hesson, PhD, FFScRCPA
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    5
    MAY 14, 2020 | 1:25 PM
    NATA Accreditation of Next Generation Sequencing for CDx Testing
    NATA Accreditation of Next Generation Sequencing for CDx Testing
    ...
    Speaker: Luke Hesson, PhD, FFScRCPA
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    APR 24, 2020 | 8:00 AM
    Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide Structural Variant Analysis
    Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide...
    DATE: April 24, 2020 TIME: 8:00am PT, 11:00am ET, 5:00pm CET...
    Speaker: Ben Clifford, PhD , Sven Bocklandt, PhD
    Sponsored By: Bionano
    11
    APR 22, 2020 | 12:00 AM
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
    The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
    Speaker: Ben Liesfeld, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Long-range technologies resolve complex genomic regions overlooked by short-read sequencing
    Long-range technologies resolve complex genomic regions overlooked...
    Complex genomes, including the human genome, contain ‘dark’ regions that standard short-read sequencing technologies do not adequately resolve—overlooking many variants tha...
    Speaker: Mark Ebbert, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 21, 2020 | 12:00 PM
    SNVs to Large Structural Variation: Capturing nucleotide through inter-chromosomal variants through a powerful three-dimensional data type
    SNVs to Large Structural Variation: Capturing nucleotide through...
    Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
    Speaker: Cory Padilla, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 5:30 AM
    PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants
    PRINCESS: A Framework for Comprehensive Detection and Haplotype...
    Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Singl...
    Speaker: Medhat Mahmoud, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 12:00 AM
    Bionano Genome Imaging: unbiased, genome-wide structural variation detection in genetic disease and cancer, down to 1% allele fraction
    Bionano Genome Imaging: unbiased, genome-wide structural variation...
    Learning Objectives: 1. Learn why the complexity and repetitive structure of the human genome makes it impossible to detect all structural variants using short-read sequencing 2. Learn how h...
    Speaker: Sven Bocklandt, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 12:00 AM
    Contribution of transposons to structural variation and phenotypic diversity in tomato
    Contribution of transposons to structural variation and phenotypic...
    Structural variation within plant genomes has fueled domestication and selection of traits critical for modern breeding of crop plants. Nevertheless, dissecting the diversity of structural v...
    Speaker: Matthias Benoit, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
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