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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 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 2022: A Virtual NGS Education Meeting
      10
      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 | 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 | 2:40 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 | 2:15 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 | 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 | 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
      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
      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
      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
      MAR 31, 2020 | 9:00 AM
      Impact of liquid biopsy in advanced HER2+ breast cancer tumors: a follow-up study
      Impact of liquid biopsy in advanced HER2+ breast cancer tumors:...
      DATE: March 31, 2020 TIME: 9:00am PT, 12:00pm ET HER2-positive breast cancer is a type of breast cancer caused by over-expression of a protein called human epidermal growth factor receptor 2...
      Speaker: Matteo Allegretti, PhD
      Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Applied Biosystems
      7
      MAR 24, 2020 | 11:00 AM
      3-D Organoid Models for Differentiation of PSC-Derived Dopaminergic Neurons
      3-D Organoid Models for Differentiation of PSC-Derived Dopaminergic...
      DATE: March 24, 2020 TIME: 11:00am PT, 2:00pm ET While in vitro cell culture has long been used to study neurological diseases, researchers have come to the realization that 2-D systems do n...
      Speaker: Richard Josephson, PhD
      Sponsored By: Thermo Fisher Scientific - Disease Modeling
      9
      MAR 11, 2020 | 7:30 AM
      Keynote Presentation: Interplay between LRRK2 protein kinase and Rab GTPases in Parkinson's disease
      Keynote Presentation: Interplay between LRRK2 protein kinase and...
      Autosomal dominant missense mutations that hyperactivate the LRRK2 protein kinase are a common cause of inherited Parkinson’s disease and therapeutic efficacy of LRRK2 inhibitors is be...
      Speaker: Dario Alessi, FRS FMedSci FRSE
      Presented at: Neuroscience Virtual Event Series 2020
      1
      JAN 09, 2020 | 10:00 AM
      Engineering the hematopoietic system to treat non-hematological disorders
      Engineering the hematopoietic system to treat non-hematological...
      Join us on January 9, 2020 for this live webinar!...
      Speaker: Natalia Gomez-Ospina, PhD
      Sponsored By: STEMCELL Technologies
      10
      NOV 14, 2019 | 10:30 AM
      Identifying the PIK3CA mutations that make a difference in breast cancer with the QIAGEN therascreen® PIK3CA RGQ PCR Kit
      Identifying the PIK3CA mutations that make a difference in breast...
      Breast cancer is the most frequently occurring form of cancer in women. While 5-year survival rates for localized disease approach 99%, cases of advanced breast cancer have a much poorer pro...
      Speaker: Benjamin Chaffey, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2019
      Sponsored By: QIAGEN
      1
      NOV 12, 2019 | 10:00 AM
      Leveraging single cell copy number to resolve tumor clonality
      Leveraging single cell copy number to resolve tumor clonality
      DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
      Speaker: Dr. David Craig
      Sponsored By: 10x Genomics
      9 1
      NOV 06, 2019 | 1:30 PM
      Challenges towards a Universal Influenza Virus Vaccine
      Challenges towards a Universal Influenza Virus Vaccine
      Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
      Speaker: Peter Palese, PhD
      Presented at: Influenza Virtual Event Series 2019
      4 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 2022: A Virtual NGS Education Meeting
    10
     
     
  • 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 | 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 | 2:40 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 | 2:15 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 | 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 | 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
    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
    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
    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
    MAR 31, 2020 | 9:00 AM
    Impact of liquid biopsy in advanced HER2+ breast cancer tumors: a follow-up study
    Impact of liquid biopsy in advanced HER2+ breast cancer tumors:...
    DATE: March 31, 2020 TIME: 9:00am PT, 12:00pm ET HER2-positive breast cancer is a type of breast cancer caused by over-expression of a protein called human epidermal growth factor receptor 2...
    Speaker: Matteo Allegretti, PhD
    Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Applied Biosystems
    7
    MAR 24, 2020 | 11:00 AM
    3-D Organoid Models for Differentiation of PSC-Derived Dopaminergic Neurons
    3-D Organoid Models for Differentiation of PSC-Derived Dopaminergic...
    DATE: March 24, 2020 TIME: 11:00am PT, 2:00pm ET While in vitro cell culture has long been used to study neurological diseases, researchers have come to the realization that 2-D systems do n...
    Speaker: Richard Josephson, PhD
    Sponsored By: Thermo Fisher Scientific - Disease Modeling
    9
    MAR 11, 2020 | 7:30 AM
    Keynote Presentation: Interplay between LRRK2 protein kinase and Rab GTPases in Parkinson's disease
    Keynote Presentation: Interplay between LRRK2 protein kinase and...
    Autosomal dominant missense mutations that hyperactivate the LRRK2 protein kinase are a common cause of inherited Parkinson’s disease and therapeutic efficacy of LRRK2 inhibitors is be...
    Speaker: Dario Alessi, FRS FMedSci FRSE
    Presented at: Neuroscience Virtual Event Series 2020
    1
     
     
  • JAN 09, 2020 | 10:00 AM
    Engineering the hematopoietic system to treat non-hematological disorders
    Engineering the hematopoietic system to treat non-hematological...
    Join us on January 9, 2020 for this live webinar!...
    Speaker: Natalia Gomez-Ospina, PhD
    Sponsored By: STEMCELL Technologies
    10
    NOV 14, 2019 | 10:30 AM
    Identifying the PIK3CA mutations that make a difference in breast cancer with the QIAGEN therascreen® PIK3CA RGQ PCR Kit
    Identifying the PIK3CA mutations that make a difference in breast...
    Breast cancer is the most frequently occurring form of cancer in women. While 5-year survival rates for localized disease approach 99%, cases of advanced breast cancer have a much poorer pro...
    Speaker: Benjamin Chaffey, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2019
    Sponsored By: QIAGEN
    1
    NOV 12, 2019 | 10:00 AM
    Leveraging single cell copy number to resolve tumor clonality
    Leveraging single cell copy number to resolve tumor clonality
    DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
    Speaker: Dr. David Craig
    Sponsored By: 10x Genomics
    9 1
    NOV 06, 2019 | 1:30 PM
    Challenges towards a Universal Influenza Virus Vaccine
    Challenges towards a Universal Influenza Virus Vaccine
    Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
    Speaker: Peter Palese, PhD
    Presented at: Influenza Virtual Event Series 2019
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