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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

    • AUG 21, 2014 | 8:45 AM
      Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
      Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical...
      Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
      Speaker: Jimmy Lin, MD, PhD, MHS
      Presented at: Genetics and Genomics Virtual Event Series 2014
      122
      AUG 21, 2014 | 8:45 AM
      Genome and exome sequencing in a clinical laboratory
      Genome and exome sequencing in a clinical laboratory
      With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
      Speaker: Matthew Lebo, PhD, FACMG
      Presented at: Genetics and Genomics Virtual Event Series 2014
      30
      AUG 21, 2014 | 6:45 AM
      Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
      Practical Considerations for the Clinical Interpretation of Germline...
      The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
      Speaker: Heather McLaughlin, PhD, MB(ASCP)CM
      Presented at: Genetics and Genomics Virtual Event Series 2014
      68
      AUG 20, 2014 | 11:45 AM
      Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
      Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
      The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
      Speaker: Ellen T Matloff, MS, CGC
      Presented at: Genetics and Genomics Virtual Event Series 2014
      39
      AUG 20, 2014 | 11:30 AM
      More Comprehensive Views of Human Genetic Variation
      More Comprehensive Views of Human Genetic Variation
      High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      8
      AUG 20, 2014 | 10:30 AM
      One Platform. Many Analyses
      One Platform. Many Analyses
      Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
      Speaker: Sohela Shah, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      8
      AUG 20, 2014 | 8:00 AM
      High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers
      High-resolution genomic analysis reveals genetic impacts of human...
      One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
      Speaker: David E Symer, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      4
      AUG 20, 2014 | 8:00 AM
      Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
      Exploring Complex Structural Genomic Variation using Next-Gen...
      Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
      Speaker: Ryan E. Mills, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      12
      MAY 30, 2014 | 7:30 AM
      Multiplexed Fusion Gene Detection using Next Generation Sequencing
      Multiplexed Fusion Gene Detection using Next Generation Sequencing
      As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
      Speaker: Kelli Bramlett and Jeoffrey Schageman
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
      82
      MAR 20, 2014 | 1:00 PM
      The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders
      The role of high throughput sequencing in the research and diagnosis...
      Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
      Speaker: Peter L Nagy, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      0
      FEB 28, 2014 | 10:00 AM
      Whole exome sequencing in clinical research using the Ion Proton Sequencer for detection of relevant variants in rare disorders
      Whole exome sequencing in clinical research using the Ion Proton...
      ...
      Speaker: Christian Marshall, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Rare Disease Day
      48
      OCT 17, 2013 | 3:00 PM
      C.E. CREDITS
      From Genomic Questions to Clinical Answers in Cancer
      From Genomic Questions to Clinical Answers in Cancer
      Although genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with cancer, the contribution to risk of these variants is small, rende...
      Speaker: Kenan Onel MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      46
      OCT 17, 2013 | 12:00 PM
      C.E. CREDITS
      Embracing the Complexity of Cancer: Seeing the Forest and the Trees
      Embracing the Complexity of Cancer: Seeing the Forest and the...
      Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      34
      AUG 22, 2013 | 1:00 PM
      Embracing the Complexity of Cancer: Seeing the Forest and the Trees
      Embracing the Complexity of Cancer: Seeing the Forest and the...
      Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Genetics and Genomics Virtual Event Series 2013
      92
      AUG 22, 2013 | 12:00 PM
      C.E. CREDITS
      Exome Sequencing as a Diagnostic Tool
      Exome Sequencing as a Diagnostic Tool
      It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
      Speaker: Pinar Bayrak-Toydemir, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      66
      AUG 22, 2013 | 10:00 AM
      C.E. CREDITS
      Clinical Interpretation of Sequence Variants
      Clinical Interpretation of Sequence Variants
      The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
      Speaker: Elaine Lyon, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      72
      AUG 22, 2013 | 9:00 AM
      C.E. CREDITS
      Management and Analysis of Pre-implantation Genetic Diagnosis Data
      Management and Analysis of Pre-implantation Genetic Diagnosis...
      During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
      Speaker: Deanne Taylor, MS, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      34
      AUG 22, 2013 | 7:00 AM
      C.E. CREDITS
      Warfarin Sensitivity Testing
      Warfarin Sensitivity Testing
      Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
      Speaker: Thomas P Moyer, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      64
      AUG 21, 2013 | 12:00 PM
      C.E. CREDITS
      Genetics of Coronary Artery Disease
      Genetics of Coronary Artery Disease
      Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
      Speaker: Robert Roberts, MD, FRCPC, MACC, LLD (Hon.)
      Presented at: Genetics and Genomics Virtual Event Series 2013
      36
      AUG 21, 2013 | 8:00 AM
      C.E. CREDITS
      Implementation of genome sequencing in a clinical diagnostic laboratory
      Implementation of genome sequencing in a clinical diagnostic laboratory
      With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
      Speaker: Matthew Lebo, PhD, FACMG
      Presented at: Genetics and Genomics Virtual Event Series 2013
      79
      AUG 21, 2013 | 8:00 AM
      Post Genome-Wide Association Studies
      Post Genome-Wide Association Studies
      In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      105
      AUG 21, 2013 | 7:00 AM
      Improving the Accuracy of Genome Sequencing and Interpretation
      Improving the Accuracy of Genome Sequencing and Interpretation
      Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
      Speaker: George Church, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      46
      AUG 21, 2013 | 6:00 AM
      C.E. CREDITS
      M-protein Evaluation in an Age of Automation: Capillary Electrophoresis, Free Light Chains & Heavy-Light Measurements
      M-protein Evaluation in an Age of Automation: Capillary Electrophoresis,...
      This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
      Speaker: David F Keren, MD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      46
    AUG 21, 2014 | 8:45 AM
    Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
    Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical...
    Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
    Speaker: Jimmy Lin, MD, PhD, MHS
    Presented at: Genetics and Genomics Virtual Event Series 2014
    122
    AUG 21, 2014 | 8:45 AM
    Genome and exome sequencing in a clinical laboratory
    Genome and exome sequencing in a clinical laboratory
    With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
    Speaker: Matthew Lebo, PhD, FACMG
    Presented at: Genetics and Genomics Virtual Event Series 2014
    30
    AUG 21, 2014 | 6:45 AM
    Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
    Practical Considerations for the Clinical Interpretation of Germline...
    The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
    Speaker: Heather McLaughlin, PhD, MB(ASCP)CM
    Presented at: Genetics and Genomics Virtual Event Series 2014
    68
    AUG 20, 2014 | 11:45 AM
    Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
    Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
    The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
    Speaker: Ellen T Matloff, MS, CGC
    Presented at: Genetics and Genomics Virtual Event Series 2014
    39
    AUG 20, 2014 | 11:30 AM
    More Comprehensive Views of Human Genetic Variation
    More Comprehensive Views of Human Genetic Variation
    High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    8
     
     
  • AUG 20, 2014 | 10:30 AM
    One Platform. Many Analyses
    One Platform. Many Analyses
    Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
    Speaker: Sohela Shah, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    8
    AUG 20, 2014 | 8:00 AM
    High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers
    High-resolution genomic analysis reveals genetic impacts of human...
    One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
    Speaker: David E Symer, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    4
    AUG 20, 2014 | 8:00 AM
    Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
    Exploring Complex Structural Genomic Variation using Next-Gen...
    Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
    Speaker: Ryan E. Mills, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    12
    MAY 30, 2014 | 7:30 AM
    Multiplexed Fusion Gene Detection using Next Generation Sequencing
    Multiplexed Fusion Gene Detection using Next Generation Sequencing
    As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
    Speaker: Kelli Bramlett and Jeoffrey Schageman
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
    82
    MAR 20, 2014 | 1:00 PM
    The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders
    The role of high throughput sequencing in the research and diagnosis...
    Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
    Speaker: Peter L Nagy, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    0
     
     
  • FEB 28, 2014 | 10:00 AM
    Whole exome sequencing in clinical research using the Ion Proton Sequencer for detection of relevant variants in rare disorders
    Whole exome sequencing in clinical research using the Ion Proton...
    ...
    Speaker: Christian Marshall, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Rare Disease Day
    48
    OCT 17, 2013 | 3:00 PM
    C.E. CREDITS
    From Genomic Questions to Clinical Answers in Cancer
    From Genomic Questions to Clinical Answers in Cancer
    Although genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with cancer, the contribution to risk of these variants is small, rende...
    Speaker: Kenan Onel MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    46
    OCT 17, 2013 | 12:00 PM
    C.E. CREDITS
    Embracing the Complexity of Cancer: Seeing the Forest and the Trees
    Embracing the Complexity of Cancer: Seeing the Forest and the...
    Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    34
    AUG 22, 2013 | 1:00 PM
    Embracing the Complexity of Cancer: Seeing the Forest and the Trees
    Embracing the Complexity of Cancer: Seeing the Forest and the...
    Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Genetics and Genomics Virtual Event Series 2013
    92
    AUG 22, 2013 | 12:00 PM
    C.E. CREDITS
    Exome Sequencing as a Diagnostic Tool
    Exome Sequencing as a Diagnostic Tool
    It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
    Speaker: Pinar Bayrak-Toydemir, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    66
     
     
  • AUG 22, 2013 | 10:00 AM
    C.E. CREDITS
    Clinical Interpretation of Sequence Variants
    Clinical Interpretation of Sequence Variants
    The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
    Speaker: Elaine Lyon, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    72
    AUG 22, 2013 | 9:00 AM
    C.E. CREDITS
    Management and Analysis of Pre-implantation Genetic Diagnosis Data
    Management and Analysis of Pre-implantation Genetic Diagnosis...
    During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
    Speaker: Deanne Taylor, MS, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    34
    AUG 22, 2013 | 7:00 AM
    C.E. CREDITS
    Warfarin Sensitivity Testing
    Warfarin Sensitivity Testing
    Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
    Speaker: Thomas P Moyer, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    64
    AUG 21, 2013 | 12:00 PM
    C.E. CREDITS
    Genetics of Coronary Artery Disease
    Genetics of Coronary Artery Disease
    Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
    Speaker: Robert Roberts, MD, FRCPC, MACC, LLD (Hon.)
    Presented at: Genetics and Genomics Virtual Event Series 2013
    36
    AUG 21, 2013 | 8:00 AM
    C.E. CREDITS
    Implementation of genome sequencing in a clinical diagnostic laboratory
    Implementation of genome sequencing in a clinical diagnostic laboratory
    With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
    Speaker: Matthew Lebo, PhD, FACMG
    Presented at: Genetics and Genomics Virtual Event Series 2013
    79
     
     
  • AUG 21, 2013 | 8:00 AM
    Post Genome-Wide Association Studies
    Post Genome-Wide Association Studies
    In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    105
    AUG 21, 2013 | 7:00 AM
    Improving the Accuracy of Genome Sequencing and Interpretation
    Improving the Accuracy of Genome Sequencing and Interpretation
    Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
    Speaker: George Church, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    46
    AUG 21, 2013 | 6:00 AM
    C.E. CREDITS
    M-protein Evaluation in an Age of Automation: Capillary Electrophoresis, Free Light Chains & Heavy-Light Measurements
    M-protein Evaluation in an Age of Automation: Capillary Electrophoresis,...
    This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
    Speaker: David F Keren, MD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    46
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