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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

    • JAN 31, 2022 | 6:00 AM
      Expanded Carrier Screening Clinical Research with Ion Torrent CarrierSeq ECS
      Expanded Carrier Screening Clinical Research with Ion Torrent...
      Date: January 31, 2022 Time: 6:00am (PST), 9:00am (EST) The advent of massively parallel next‐generation DNA sequencing (NGS) technologies has provided opportunities to radically improve str...
      Speaker: Bruno Coprerski
      Sponsored By: Thermo Fisher Scientific
      20 5
      JAN 20, 2022 | 11:00 AM
      How to streamline your variant classification workflow with HGMD
      How to streamline your variant classification workflow with HGMD
      Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
      Speaker: Malaina Gaddis, PhD
      Sponsored By: QIAGEN
      14
      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
      DEC 02, 2021 | 9:00 AM
      See when your AAV can't stand the heat with Uncle
      See when your AAV can't stand the heat with Uncle
      Date: December 2, 2021 Time: 9:00am (PST), 12:00am (EST) To really see what’s going on with your AAV’s capsid, you’ve got to keep an eye out for aggregation, protein unfold...
      Speaker: Kevin Lance, Ph.D.
      Sponsored By: Unchained Labs
      3
      DEC 01, 2021 | 12:00 PM
      Viral Evolution and Implications on HIV and SARS-CoV-2
      Viral Evolution and Implications on HIV and SARS-CoV-2
      Date: December 1, 2021 Time: 12:00pm (PST), 3:00pm (EST) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
      Speaker: Mary Rodgers, PhD
      Sponsored By: Abbott
      8
      NOV 02, 2021 | 7:00 AM
      LiquidArray® technology for TB / Mycobacteria diagnostics and beyond
      LiquidArray® technology for TB / Mycobacteria diagnostics and...
      Date: November 2, 2021 Time: 7:00am (PDT), 10:00am (EDT) Tuberculosis and nontuberculous mycobacteria are an alarming and ongoing global issue which requires fast and innovative diagn...
      Speaker: Sandra Burrack-Lange, PhD
      Sponsored By: Bruker Microbiology & Infection Diagnostics
      9
      OCT 26, 2021 | 9:00 AM
      Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
      Hemoglobinopathy Testing: What are the Key Points a Lab Should...
      Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
      Speaker: Dr. Cornelis Harteveld
      Sponsored By: Sebia, Inc.
      19
      OCT 13, 2021 | 3:00 PM
      Accelerating SARS-CoV-2 Genomic Surveillance with High-throughput NGS
      Accelerating SARS-CoV-2 Genomic Surveillance with High-throughput...
      Since late 2020, several prominent SARS-CoV-2 variants of concern have emerged, harboring specific mutations which increase viral transmissibility Delta variant) and which appear to reduce t...
      Speaker: James Caffrey, PhD, MBA
      Presented at: Coronavirus Series
      Sponsored By: QIAGEN
      1
      OCT 13, 2021 | 10:00 AM
      Overcoming sequence artifacts to fuel clinically relevant NGS applications
      Overcoming sequence artifacts to fuel clinically relevant NGS...
      Date: October 13, 2021 Time: 10:00am (PDT), 01:00pm (EDT) Clinically-relevant applications, such as somatic variant detection, continue to push the bounds...
      Speaker: Zane Jaafar, Ph.D
      Sponsored By: Watchmaker Genomics
      27
      OCT 07, 2021 | 1:30 PM
      Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge to Annotate Variants and Assess Prevalence: Introducing a New Somatic Database-Our Best Kept Secret
      Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge...
      Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clini...
      Speaker: Beate Litzenburger, Ph.D.
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      0
      SEP 29, 2021 | 11:59 PM
      Nanoparticle Based Delivery of Gene Editing Enzymes
      Nanoparticle Based Delivery of Gene Editing Enzymes
      Cas9 based therapeutics have the potential to revolutionize the treatment of genetic diseases. However, safe and effective methods for delivering Cas9 protein, gRNA and donor DNA need to be...
      Speaker: Niren Murthy, PhD
      Presented at: CRISPR Virtual Event Series 2021
      2 2
      SEP 09, 2021 | 7:00 AM
      Maximize your variant knowledge using the Human Gene Mutation Database (HGMD®) Professional
      Maximize your variant knowledge using the Human Gene Mutation...
      Date: September 9, 2021 Time: 7:00am (PDT), 10:00am (EDT) Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, HGMD attempts to collate all known, publi...
      Speaker: Dr. Ruth Burton
      Sponsored By: QIAGEN
      3
      AUG 25, 2021 | 1:30 PM
      Spatial Transcriptomics of Alzheimer's Disease Mouse Models with and Without Trem2R47H Mutation.
      Spatial Transcriptomics of Alzheimer's Disease Mouse Models with...
      In this preliminary experiment, we used spatial transcriptomics to assess the gene expression profiles of microglia or astrocytes in relation to their distance from plaques. We compared 18-m...
      Speaker: Frances Edwards, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      Sponsored By: NanoString Technologies
      1
      AUG 25, 2021 | 8:00 AM
      Improving heterologous protein production in yeast with massively parallel CRISPR genome editing
      Improving heterologous protein production in yeast with massively...
      Date: August 25, 2021 Time: 8:00am (PDT), 11:00am (EDT) Heterologous protein production is an indispensable tool in biotechnology and biopharma for manufacturing enzymes, protein therapeutic...
      Speaker: Eric Abbate
      Sponsored By: Inscripta
      5 2
      AUG 25, 2021 | 12:00 AM
      Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis
      Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic...
      Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
      Speaker: Paul Valdmanis, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      Sponsored By: PacBio
      1
      AUG 25, 2021 | 12:00 AM
      A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
      A Novel Mouse Model of Ataxia Telangiectasia for Testing Small...
      Ataxia Telangiectasia, also known as A-T, is a devastating neuropediatric and genetic disorder for which there is no cure. Patients suffer from immune deficiency, cancer predisposition, and...
      Speaker: Paul Mathews, PhD
      Presented at: Neuroscience Virtual Event Series 2021
      1
      AUG 24, 2021 | 8:00 AM
      How can liquid biopsy help in the management of patients with liver cancer?
      How can liquid biopsy help in the management of patients with...
      Date: August 24, 2021 Time: 8:00am (PST), 11:00am (EST) Liver cancer is the third cause of cancer-related mortality worldwide. Most patients have chronic liver disease, which has allowed...
      Speaker: Dr. Augusto Villanueva
      Sponsored By: Agilent
      9
      JUL 28, 2021 | 7:00 AM
      Population bottlenecks strongly affect the evolutionary dynamics of antibiotic persistence
      Population bottlenecks strongly affect the evolutionary dynamics...
      Date: July 28, 2021 Time: 7:00am PDT Bacterial persistence is a potential cause of antibiotic therapy failure. Antibiotic-tolerant persisters originate from phenotypic differentiation within...
      Speaker: Bram Van den Bergh
      Sponsored By: Inscripta
      5 1
      JUN 30, 2021 | 11:00 AM
      How community hospital labs can perform comprehensive genomic profiling with the support of professional clinical interpretation services
      How community hospital labs can perform comprehensive genomic...
      Date: June 30, 2021 Time: 11:00am PDT As next-generation DNA sequencing technology continues to evolve and become further integrated into routine clinical testing, the need for efficient and...
      Speaker: Sheryl Elkin, PhD , Linda Call
      Sponsored By: QIAGEN
      3
      JUN 29, 2021 | 10:00 AM
      Approaches for Rapid Genomic Surveillance to Identify SARS-CoV-2 Variants
      Approaches for Rapid Genomic Surveillance to Identify SARS-CoV-2...
      Date: June 29, 2021 Time: 10:00am (PDT), 1:00pm (EDT) SARS-CoV-2 continues to evolve and surveillance of variants is a necessity. Routine analysis of genetic sequence data allows the identif...
      Speaker: Donna Wolk, MHA, PhD, D(ABMM)
      Sponsored By: Diasorin
      16
      JUN 16, 2021 | 7:00 AM
      The paradigm of lung cancer: from therapy selection to resistance monitoring
      The paradigm of lung cancer: from therapy selection to resistance...
      Date: June 16, 2021 Time: 7:00am (PDT), 10:00am (EDT) Non-small cell lung cancer (NSCLC) has become an important example of precision medicine among solid tumor malignancies. Next-generation...
      Speaker: Antonio Marchetti, Ph.D
      Sponsored By: Agilent
      6
      JUN 08, 2021 | 10:00 AM
      Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
      Researching Early Detection of Ovarian and Endometrial Cancer...
      Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
      Speaker: Lucy Gilbert, MD, MSc, FRCOG , Ioannis Ragoussis, Ph.D.
      Sponsored By: Agilent
      20
      MAY 26, 2021 | 8:00 AM
      The Diagnostic & Clinical Impact of SARS-CoV-2 Variants
      The Diagnostic & Clinical Impact of SARS-CoV-2 Variants
      The increasing spread of variants across the globe raises questions about the effectiveness of existing programs to protect public health. Join Dr. Lauring, a researcher of virus mutations,...
      Speaker: Adam Lauring, MD, PhD
      Presented at: A Bio-Rad Quality Control Virtual Conference
      24
      MAY 18, 2021 | 7:00 AM
      Hitting the Achilles' Heel of Cancers with Confidence - Robust Validation of Neoantigens
      Hitting the Achilles' Heel of Cancers with Confidence - Robust...
      Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
      Speaker: Qing Wang, PhD, MHS, MS
      Sponsored By: Agilent
      5 2
    JAN 31, 2022 | 6:00 AM
    Expanded Carrier Screening Clinical Research with Ion Torrent CarrierSeq ECS
    Expanded Carrier Screening Clinical Research with Ion Torrent...
    Date: January 31, 2022 Time: 6:00am (PST), 9:00am (EST) The advent of massively parallel next‐generation DNA sequencing (NGS) technologies has provided opportunities to radically improve str...
    Speaker: Bruno Coprerski
    Sponsored By: Thermo Fisher Scientific
    20 5
    JAN 20, 2022 | 11:00 AM
    How to streamline your variant classification workflow with HGMD
    How to streamline your variant classification workflow with HGMD
    Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
    Speaker: Malaina Gaddis, PhD
    Sponsored By: QIAGEN
    14
    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
    DEC 02, 2021 | 9:00 AM
    See when your AAV can't stand the heat with Uncle
    See when your AAV can't stand the heat with Uncle
    Date: December 2, 2021 Time: 9:00am (PST), 12:00am (EST) To really see what’s going on with your AAV’s capsid, you’ve got to keep an eye out for aggregation, protein unfold...
    Speaker: Kevin Lance, Ph.D.
    Sponsored By: Unchained Labs
    3
    DEC 01, 2021 | 12:00 PM
    Viral Evolution and Implications on HIV and SARS-CoV-2
    Viral Evolution and Implications on HIV and SARS-CoV-2
    Date: December 1, 2021 Time: 12:00pm (PST), 3:00pm (EST) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
    Speaker: Mary Rodgers, PhD
    Sponsored By: Abbott
    8
     
     
  • NOV 02, 2021 | 7:00 AM
    LiquidArray® technology for TB / Mycobacteria diagnostics and beyond
    LiquidArray® technology for TB / Mycobacteria diagnostics and...
    Date: November 2, 2021 Time: 7:00am (PDT), 10:00am (EDT) Tuberculosis and nontuberculous mycobacteria are an alarming and ongoing global issue which requires fast and innovative diagn...
    Speaker: Sandra Burrack-Lange, PhD
    Sponsored By: Bruker Microbiology & Infection Diagnostics
    9
    OCT 26, 2021 | 9:00 AM
    Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
    Hemoglobinopathy Testing: What are the Key Points a Lab Should...
    Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
    Speaker: Dr. Cornelis Harteveld
    Sponsored By: Sebia, Inc.
    19
    OCT 13, 2021 | 3:00 PM
    Accelerating SARS-CoV-2 Genomic Surveillance with High-throughput NGS
    Accelerating SARS-CoV-2 Genomic Surveillance with High-throughput...
    Since late 2020, several prominent SARS-CoV-2 variants of concern have emerged, harboring specific mutations which increase viral transmissibility Delta variant) and which appear to reduce t...
    Speaker: James Caffrey, PhD, MBA
    Presented at: Coronavirus Series
    Sponsored By: QIAGEN
    1
    OCT 13, 2021 | 10:00 AM
    Overcoming sequence artifacts to fuel clinically relevant NGS applications
    Overcoming sequence artifacts to fuel clinically relevant NGS...
    Date: October 13, 2021 Time: 10:00am (PDT), 01:00pm (EDT) Clinically-relevant applications, such as somatic variant detection, continue to push the bounds...
    Speaker: Zane Jaafar, Ph.D
    Sponsored By: Watchmaker Genomics
    27
    OCT 07, 2021 | 1:30 PM
    Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge to Annotate Variants and Assess Prevalence: Introducing a New Somatic Database-Our Best Kept Secret
    Harnessing Insight from Real-world Oncology Cases and QIAGEN Knowledge...
    Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clini...
    Speaker: Beate Litzenburger, Ph.D.
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    0
     
     
  • SEP 29, 2021 | 11:59 PM
    Nanoparticle Based Delivery of Gene Editing Enzymes
    Nanoparticle Based Delivery of Gene Editing Enzymes
    Cas9 based therapeutics have the potential to revolutionize the treatment of genetic diseases. However, safe and effective methods for delivering Cas9 protein, gRNA and donor DNA need to be...
    Speaker: Niren Murthy, PhD
    Presented at: CRISPR Virtual Event Series 2021
    2 2
    SEP 09, 2021 | 7:00 AM
    Maximize your variant knowledge using the Human Gene Mutation Database (HGMD®) Professional
    Maximize your variant knowledge using the Human Gene Mutation...
    Date: September 9, 2021 Time: 7:00am (PDT), 10:00am (EDT) Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, HGMD attempts to collate all known, publi...
    Speaker: Dr. Ruth Burton
    Sponsored By: QIAGEN
    3
    AUG 25, 2021 | 1:30 PM
    Spatial Transcriptomics of Alzheimer's Disease Mouse Models with and Without Trem2R47H Mutation.
    Spatial Transcriptomics of Alzheimer's Disease Mouse Models with...
    In this preliminary experiment, we used spatial transcriptomics to assess the gene expression profiles of microglia or astrocytes in relation to their distance from plaques. We compared 18-m...
    Speaker: Frances Edwards, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    Sponsored By: NanoString Technologies
    1
    AUG 25, 2021 | 8:00 AM
    Improving heterologous protein production in yeast with massively parallel CRISPR genome editing
    Improving heterologous protein production in yeast with massively...
    Date: August 25, 2021 Time: 8:00am (PDT), 11:00am (EDT) Heterologous protein production is an indispensable tool in biotechnology and biopharma for manufacturing enzymes, protein therapeutic...
    Speaker: Eric Abbate
    Sponsored By: Inscripta
    5 2
    AUG 25, 2021 | 12:00 AM
    Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic Lateral Sclerosis
    Mechanistic Insight into Tandem Repeat Expansions in Amyotrophic...
    Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
    Speaker: Paul Valdmanis, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    Sponsored By: PacBio
    1
     
     
  • AUG 25, 2021 | 12:00 AM
    A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
    A Novel Mouse Model of Ataxia Telangiectasia for Testing Small...
    Ataxia Telangiectasia, also known as A-T, is a devastating neuropediatric and genetic disorder for which there is no cure. Patients suffer from immune deficiency, cancer predisposition, and...
    Speaker: Paul Mathews, PhD
    Presented at: Neuroscience Virtual Event Series 2021
    1
    AUG 24, 2021 | 8:00 AM
    How can liquid biopsy help in the management of patients with liver cancer?
    How can liquid biopsy help in the management of patients with...
    Date: August 24, 2021 Time: 8:00am (PST), 11:00am (EST) Liver cancer is the third cause of cancer-related mortality worldwide. Most patients have chronic liver disease, which has allowed...
    Speaker: Dr. Augusto Villanueva
    Sponsored By: Agilent
    9
    JUL 28, 2021 | 7:00 AM
    Population bottlenecks strongly affect the evolutionary dynamics of antibiotic persistence
    Population bottlenecks strongly affect the evolutionary dynamics...
    Date: July 28, 2021 Time: 7:00am PDT Bacterial persistence is a potential cause of antibiotic therapy failure. Antibiotic-tolerant persisters originate from phenotypic differentiation within...
    Speaker: Bram Van den Bergh
    Sponsored By: Inscripta
    5 1
    JUN 30, 2021 | 11:00 AM
    How community hospital labs can perform comprehensive genomic profiling with the support of professional clinical interpretation services
    How community hospital labs can perform comprehensive genomic...
    Date: June 30, 2021 Time: 11:00am PDT As next-generation DNA sequencing technology continues to evolve and become further integrated into routine clinical testing, the need for efficient and...
    Speaker: Sheryl Elkin, PhD , Linda Call
    Sponsored By: QIAGEN
    3
    JUN 29, 2021 | 10:00 AM
    Approaches for Rapid Genomic Surveillance to Identify SARS-CoV-2 Variants
    Approaches for Rapid Genomic Surveillance to Identify SARS-CoV-2...
    Date: June 29, 2021 Time: 10:00am (PDT), 1:00pm (EDT) SARS-CoV-2 continues to evolve and surveillance of variants is a necessity. Routine analysis of genetic sequence data allows the identif...
    Speaker: Donna Wolk, MHA, PhD, D(ABMM)
    Sponsored By: Diasorin
    16
     
     
  • JUN 16, 2021 | 7:00 AM
    The paradigm of lung cancer: from therapy selection to resistance monitoring
    The paradigm of lung cancer: from therapy selection to resistance...
    Date: June 16, 2021 Time: 7:00am (PDT), 10:00am (EDT) Non-small cell lung cancer (NSCLC) has become an important example of precision medicine among solid tumor malignancies. Next-generation...
    Speaker: Antonio Marchetti, Ph.D
    Sponsored By: Agilent
    6
    JUN 08, 2021 | 10:00 AM
    Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
    Researching Early Detection of Ovarian and Endometrial Cancer...
    Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
    Speaker: Lucy Gilbert, MD, MSc, FRCOG , Ioannis Ragoussis, Ph.D.
    Sponsored By: Agilent
    20
    MAY 26, 2021 | 8:00 AM
    The Diagnostic & Clinical Impact of SARS-CoV-2 Variants
    The Diagnostic & Clinical Impact of SARS-CoV-2 Variants
    The increasing spread of variants across the globe raises questions about the effectiveness of existing programs to protect public health. Join Dr. Lauring, a researcher of virus mutations,...
    Speaker: Adam Lauring, MD, PhD
    Presented at: A Bio-Rad Quality Control Virtual Conference
    24
    MAY 18, 2021 | 7:00 AM
    Hitting the Achilles' Heel of Cancers with Confidence - Robust Validation of Neoantigens
    Hitting the Achilles' Heel of Cancers with Confidence - Robust...
    Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
    Speaker: Qing Wang, PhD, MHS, MS
    Sponsored By: Agilent
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