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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • JUL 07, 2020 | 6:30 AM
      Deep immunophenotyping of cancer microenvironments by Imaging Mass Cytometryâ„¢
      Deep immunophenotyping of cancer microenvironments by Imaging...
      Multiplex immunophenotyping technologies are indispensable for a deeper understanding of biological systems. Until recently, high-dimensional cellular analyses implied the loss of tissue con...
      Speaker: Noel de Miranda, PhD
      Presented at: Fluidigm Infectious Disease and Oncology Virtual Summit
      1
      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
      Cancer genomics research on tumor clonality and liquid biopsy
      Cancer genomics research on tumor clonality and liquid biopsy
      Most bladder cancer (BC) cases are non-muscle-invasive BC (NIBMC), which is rarely lethal. However, nearly one-fifth of NMIBC cases progress to muscle-invasive BC (MIBC), which shows a 5-yea...
      Speaker: Yosuke Hirotsu, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 01, 2020 | 2:30 PM
      Reproductive genetic solution on ion torrent NGS
      Reproductive genetic solution on ion torrent NGS
      NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
      Speaker: Ritu Hari, PhD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      2
      JUL 01, 2020 | 2:00 PM
      Operational strategies in molecular profiling of lung cancers
      Operational strategies in molecular profiling of lung cancers
      Lung cancer management has changed over the last few years with several actionable targets being recognised and mandated in the optimal management of these patients. The biomarker ordering p...
      Speaker: Sudha Murthy, MD
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 01, 2020 | 12:45 PM
      Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent Genexus System
      Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent...
      NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
      Speaker: Prof. Dr. Michael Hummel
      Presented at: APJ Virtual Genetic Solutions Tour 2020
      1
      JUL 01, 2020 | 12:15 PM
      Simplify your journey of molecular profiling with single day NGS
      Simplify your journey of molecular profiling with single day NGS
      Learn about how the new Ion Torrent Genexus System is addressing key challenges to next-generation sequencing (NGS) implementation, like hands-on time, time-to-result, user expertise, and af...
      Speaker: Jon Sherlock, 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
      MAY 20, 2020 | 11:45 AM
      Immune Infiltration Correlates of TP53 Mutational Status in Acute Myeloid Leukemia
      Immune Infiltration Correlates of TP53 Mutational Status in Acute...
      Tumor phenotypes are dictated not only by the neoplastic cell component, but also by the tumor microenvironment (TME), which is inherently immuno-suppressive, is equipped to hamper effector...
      Speaker: Sergio Rutella, MD, PhD, FRCPath
      Presented at: Advancing Science - A Virtual Oncology Conference
      1
      MAY 19, 2020 | 11:45 AM
      Discovery of Biomarkers Associated with Benefit From PD-1 Checkpoint Blockade in Non-small-cell Lung Cancer (NSCLC) Using High-plex Digital Spatial Profiling
      Discovery of Biomarkers Associated with Benefit From PD-1 Checkpoint...
      The majority of patients with advanced NSCLC do not respond to monotherapy with PD-1 axis inhibition, and more robust predictive biomarkers are needed. In this study, we assessed tumor sampl...
      Speaker: Jon Zugazagoitia, MD, PhD
      Presented at: Advancing Science - A Virtual Oncology Conference
      1 1
      MAY 14, 2020 | 3:30 PM
      Genexus - A Major Step Forward in Diagnostic NGS
      Genexus - A Major Step Forward in Diagnostic NGS
      NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
      Speaker: Prof. Dr. Michael Hummel
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 14, 2020 | 3:30 PM
      Genexus - A Major Step Forward in Diagnostic NGS
      Genexus - A Major Step Forward in Diagnostic NGS
      NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
      Speaker: Prof. Dr. Michael Hummel
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      10
      MAY 14, 2020 | 2:40 PM
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
      The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
      Speaker: Siew-Kee (Amanda) Low, PhD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 14, 2020 | 2:40 PM
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
      Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
      Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
      Speaker: Siew-Kee (Amanda) Low, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      8
      MAY 14, 2020 | 2:15 PM
      First Experience from New World of Easy NGS - Ion Torrent Genexus Workflow
      First Experience from New World of Easy NGS - Ion Torrent Genexus...
      In the past years, next-generation sequencing has revolutionized the way testing is done in the field of clinical oncology research. Parallel testing of genomic markers in tissue biopsies as...
      Speaker: Philip Jermann, PhD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      2
      MAY 14, 2020 | 2:15 PM
      First Experience from New World of Easy NGS - Ion Torrent Genexus Workflow
      First Experience from New World of Easy NGS - Ion Torrent Genexus...
      In the past years, next-generation sequencing has revolutionized the way testing is done in the field of clinical oncology research. Parallel testing of genomic markers in tissue biopsies as...
      Speaker: Philip Jermann, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      8
      MAY 14, 2020 | 1:00 PM
      Implementation of Multigene Testing for 1st line NSCLC - A Malaysian initiative
      Implementation of Multigene Testing for 1st line NSCLC - A Malaysian...
      The prevalence of EGFR mutation rate positivity in NSCLC is high in Asia, and this is the case in Malaysia as well. This presentation will provide Malaysia’s approach in implementation...
      Speaker: Dr. Pathmanathan Rajadurai, MBBS, FRCPA, FRCPath
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      6
      MAY 14, 2020 | 1:00 PM
      Implementation of Multigene Testing for 1st line NSCLC - A Malaysian initiative
      Implementation of Multigene Testing for 1st line NSCLC - A Malaysian...
      NSCLC in Asia has high prevalence of EGFR Mutation and this is the case in Malaysia as well. This presentation will provide Malaysia’s approach in implementation of NGS in their 1st li...
      Speaker: Dr. Pathmanathan Rajadurai, MBBS, FRCPA, FRCPath
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      MAY 06, 2020 | 12:00 AM
      Microhaplotypes: the next generation DNA marker
      Microhaplotypes: the next generation DNA marker
      Learning Objectives: 1. Molecular basis of microhaplotypes 2. Informativeness and power of discrimination of microhaplotypes 3. Mixture deconvolution via microhaplotypes...
      Speaker: Daniele Podini
      Presented at: Forensic Sciences Virtual Event Series 2020
      1
      MAY 06, 2020 | 12:00 AM
      The use of massively parallel sequencing in Forensic DNA typing - what will the future hold?
      The use of massively parallel sequencing in Forensic DNA typing...
      The current standard methodology in forensic DNA typing relies on amplification of short tandem repeat (STR) markers by the polymerase chain reaction (PCR) and allele sizes (i.e., length-bas...
      Speaker: Nicole M.M. Novroski, PhD
      Presented at: Forensic Sciences Virtual Event Series 2020
      3
      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
      Clinical Applications of Estrogen Metabolism Genetic Testing: Improving Estrogen Health, Preventing Breast Cancer and Prescribing Estrogenic Medications with Precision
      Clinical Applications of Estrogen Metabolism Genetic Testing:...
      Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
      Speaker: T.J. Hills
      Presented at: Genetics Week Virtual Event Series 2020
      3 1
      APR 02, 2020 | 8:00 AM
      Bionano Genome Imaging unravels complex structural rearrangements induced by replication stress in liver cancer
      Bionano Genome Imaging unravels complex structural rearrangements...
      DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
      Speaker: Eric Letouzé, PhD
      Sponsored By: Bionano
      14
    JUL 07, 2020 | 6:30 AM
    Deep immunophenotyping of cancer microenvironments by Imaging Mass Cytometryâ„¢
    Deep immunophenotyping of cancer microenvironments by Imaging...
    Multiplex immunophenotyping technologies are indispensable for a deeper understanding of biological systems. Until recently, high-dimensional cellular analyses implied the loss of tissue con...
    Speaker: Noel de Miranda, PhD
    Presented at: Fluidigm Infectious Disease and Oncology Virtual Summit
    1
    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
    Cancer genomics research on tumor clonality and liquid biopsy
    Cancer genomics research on tumor clonality and liquid biopsy
    Most bladder cancer (BC) cases are non-muscle-invasive BC (NIBMC), which is rarely lethal. However, nearly one-fifth of NMIBC cases progress to muscle-invasive BC (MIBC), which shows a 5-yea...
    Speaker: Yosuke Hirotsu, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 01, 2020 | 2:30 PM
    Reproductive genetic solution on ion torrent NGS
    Reproductive genetic solution on ion torrent NGS
    NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
    Speaker: Ritu Hari, PhD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    2
     
     
  • JUL 01, 2020 | 2:00 PM
    Operational strategies in molecular profiling of lung cancers
    Operational strategies in molecular profiling of lung cancers
    Lung cancer management has changed over the last few years with several actionable targets being recognised and mandated in the optimal management of these patients. The biomarker ordering p...
    Speaker: Sudha Murthy, MD
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 01, 2020 | 12:45 PM
    Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent Genexus System
    Multicentric Evaluation of Oncomine Precision Assay on Ion Torrent...
    NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
    Speaker: Prof. Dr. Michael Hummel
    Presented at: APJ Virtual Genetic Solutions Tour 2020
    1
    JUL 01, 2020 | 12:15 PM
    Simplify your journey of molecular profiling with single day NGS
    Simplify your journey of molecular profiling with single day NGS
    Learn about how the new Ion Torrent Genexus System is addressing key challenges to next-generation sequencing (NGS) implementation, like hands-on time, time-to-result, user expertise, and af...
    Speaker: Jon Sherlock, 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
    MAY 20, 2020 | 11:45 AM
    Immune Infiltration Correlates of TP53 Mutational Status in Acute Myeloid Leukemia
    Immune Infiltration Correlates of TP53 Mutational Status in Acute...
    Tumor phenotypes are dictated not only by the neoplastic cell component, but also by the tumor microenvironment (TME), which is inherently immuno-suppressive, is equipped to hamper effector...
    Speaker: Sergio Rutella, MD, PhD, FRCPath
    Presented at: Advancing Science - A Virtual Oncology Conference
    1
     
     
  • MAY 19, 2020 | 11:45 AM
    Discovery of Biomarkers Associated with Benefit From PD-1 Checkpoint Blockade in Non-small-cell Lung Cancer (NSCLC) Using High-plex Digital Spatial Profiling
    Discovery of Biomarkers Associated with Benefit From PD-1 Checkpoint...
    The majority of patients with advanced NSCLC do not respond to monotherapy with PD-1 axis inhibition, and more robust predictive biomarkers are needed. In this study, we assessed tumor sampl...
    Speaker: Jon Zugazagoitia, MD, PhD
    Presented at: Advancing Science - A Virtual Oncology Conference
    1 1
    MAY 14, 2020 | 3:30 PM
    Genexus - A Major Step Forward in Diagnostic NGS
    Genexus - A Major Step Forward in Diagnostic NGS
    NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
    Speaker: Prof. Dr. Michael Hummel
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 14, 2020 | 3:30 PM
    Genexus - A Major Step Forward in Diagnostic NGS
    Genexus - A Major Step Forward in Diagnostic NGS
    NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
    Speaker: Prof. Dr. Michael Hummel
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    10
    MAY 14, 2020 | 2:40 PM
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
    The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
    Speaker: Siew-Kee (Amanda) Low, PhD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 14, 2020 | 2:40 PM
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid biopsy sample
    Oncomine Precision Assay on Ion Torrent Genexus System for liquid...
    Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
    Speaker: Siew-Kee (Amanda) Low, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    8
     
     
  • MAY 14, 2020 | 2:15 PM
    First Experience from New World of Easy NGS - Ion Torrent Genexus Workflow
    First Experience from New World of Easy NGS - Ion Torrent Genexus...
    In the past years, next-generation sequencing has revolutionized the way testing is done in the field of clinical oncology research. Parallel testing of genomic markers in tissue biopsies as...
    Speaker: Philip Jermann, PhD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    2
    MAY 14, 2020 | 2:15 PM
    First Experience from New World of Easy NGS - Ion Torrent Genexus Workflow
    First Experience from New World of Easy NGS - Ion Torrent Genexus...
    In the past years, next-generation sequencing has revolutionized the way testing is done in the field of clinical oncology research. Parallel testing of genomic markers in tissue biopsies as...
    Speaker: Philip Jermann, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    8
    MAY 14, 2020 | 1:00 PM
    Implementation of Multigene Testing for 1st line NSCLC - A Malaysian initiative
    Implementation of Multigene Testing for 1st line NSCLC - A Malaysian...
    The prevalence of EGFR mutation rate positivity in NSCLC is high in Asia, and this is the case in Malaysia as well. This presentation will provide Malaysia’s approach in implementation...
    Speaker: Dr. Pathmanathan Rajadurai, MBBS, FRCPA, FRCPath
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    6
    MAY 14, 2020 | 1:00 PM
    Implementation of Multigene Testing for 1st line NSCLC - A Malaysian initiative
    Implementation of Multigene Testing for 1st line NSCLC - A Malaysian...
    NSCLC in Asia has high prevalence of EGFR Mutation and this is the case in Malaysia as well. This presentation will provide Malaysia’s approach in implementation of NGS in their 1st li...
    Speaker: Dr. Pathmanathan Rajadurai, MBBS, FRCPA, FRCPath
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    MAY 06, 2020 | 12:00 AM
    Microhaplotypes: the next generation DNA marker
    Microhaplotypes: the next generation DNA marker
    Learning Objectives: 1. Molecular basis of microhaplotypes 2. Informativeness and power of discrimination of microhaplotypes 3. Mixture deconvolution via microhaplotypes...
    Speaker: Daniele Podini
    Presented at: Forensic Sciences Virtual Event Series 2020
    1
     
     
  • MAY 06, 2020 | 12:00 AM
    The use of massively parallel sequencing in Forensic DNA typing - what will the future hold?
    The use of massively parallel sequencing in Forensic DNA typing...
    The current standard methodology in forensic DNA typing relies on amplification of short tandem repeat (STR) markers by the polymerase chain reaction (PCR) and allele sizes (i.e., length-bas...
    Speaker: Nicole M.M. Novroski, PhD
    Presented at: Forensic Sciences Virtual Event Series 2020
    3
    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
    Clinical Applications of Estrogen Metabolism Genetic Testing: Improving Estrogen Health, Preventing Breast Cancer and Prescribing Estrogenic Medications with Precision
    Clinical Applications of Estrogen Metabolism Genetic Testing:...
    Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
    Speaker: T.J. Hills
    Presented at: Genetics Week Virtual Event Series 2020
    3 1
    APR 02, 2020 | 8:00 AM
    Bionano Genome Imaging unravels complex structural rearrangements induced by replication stress in liver cancer
    Bionano Genome Imaging unravels complex structural rearrangements...
    DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
    Speaker: Eric Letouzé, PhD
    Sponsored By: Bionano
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