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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

    • SEP 09, 2015 | 9:00 AM
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
      DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
      Speaker: A. John Iafrate, MD, PhD
      Sponsored By: Archer DX, Archer DX
      7 1
      JUN 17, 2015 | 8:00 AM
      Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
      Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
      DATE: June 17th, 2015TIME: 8am Pacific time, 11am Eastern timeSpatial heterogeneity of tumors has been identified within and between metastatic lesions and can be visualized wit...
      Speaker: Mark Landers
      Sponsored By: Epic Sciences, Epic Sciences
      15 2
      JUN 10, 2015 | 2:00 PM
      Personalized medicine
      Personalized medicine
      Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
      Speaker: Stephen Lyle, MD, PhD
      Presented at: Cardinal Health labXchange
      Sponsored By: Cardinal Healthâ„¢ OptiFreight® Logistics
      2
      MAY 14, 2015 | 1:30 PM
      Germline Cancer Genetics in 2015
      Germline Cancer Genetics in 2015
      Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
      Speaker: Judy E Garber, MD, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      MAY 14, 2015 | 10:30 AM
      Deep mutational scanning to measure the impact of mutations in proteins on the molecular and organismal level
      Deep mutational scanning to measure the impact of mutations in...
      Deep mutational scanning is a method that marries selection for protein function amongst a large library of protein variants with high-throughput DNA sequencing to measure the activity of hun...
      Speaker: Douglas Fowler, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      2
      MAY 14, 2015 | 6:00 AM
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Genetics and Genomics Virtual Event Series 2015
      3
      MAY 13, 2015 | 3:00 PM
      Population genomics of sex chromosome evolution
      Population genomics of sex chromosome evolution
      There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
      Speaker: Melissa A Wilson Sayres, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      0
      MAY 13, 2015 | 1:30 PM
      Epigenomics of common, rare, and somatic variants underlying disease and cancer
      Epigenomics of common, rare, and somatic variants underlying disease...
      Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
      Speaker: Manolis Kellis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      JAN 21, 2015 | 10:00 PM
      NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics (AFAâ„¢)
      NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics...
       In this presentation we will illustrate the advantages of AFA technology in clinically significant applications (NGS, FFPE, ChIP) and will demonstrate the flexibility of Covaris AFA in deliv...
      Speaker: Hamid Khoja Ph.D.
      Sponsored By: Covaris, Inc., Covaris, Inc.
      8
      OCT 30, 2014 | 3:00 PM
      Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target Research/Discovery
      Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target...
      Mass spectrometry (MS)-based profiling of clinical specimens has been increasingly used in cancer research to characterize changes in protein expression between tumor and healthy tissue or be...
      Speaker: Josip Blonder, MD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      30
      OCT 30, 2014 | 3:00 PM
      Probing cancer metabolism using isotope tracers to identify therapeutic targets
      Probing cancer metabolism using isotope tracers to identify therapeutic...
      Oncogenic mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) compromise their normal activity and induce NADPH-dependent (D)2-hydroxyglutarate (2HG) production within the cytosol or m...
      Speaker: Christian Metallo, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 1:30 PM
      Structural Pathways of Cancer
      Structural Pathways of Cancer
      Structural pathways are important. They are essential to the understanding of how oncogenic mutations work and to figuring out alternative parallel pathways in drug resistant mutants. Structu...
      Speaker: Ruth Nussinov, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 10:30 AM
      Genomics in the Clinic: Promises and Challenges
      Genomics in the Clinic: Promises and Challenges
      Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
      Speaker: John Carpten, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      12
      OCT 30, 2014 | 9:00 AM
      A head-to-head comparison of whole blood derived samples (cfDNA vs CTC DNA) for cancer research using next-generation sequencing
      A head-to-head comparison of whole blood derived samples (cfDNA...
      Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
      Speaker: Paul W. Dempsey, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 30, 2014 | 6:00 AM
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
      When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
      Speaker: Kristin Landis-Piwowar, PhD, MLS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      8
      OCT 29, 2014 | 3:00 PM
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
      Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
      Speaker: Peter Blume-Jensen, MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 29, 2014 | 1:30 PM
      Protein phosphatase 2A in cell survival upon metabolic stress
      Protein phosphatase 2A in cell survival upon metabolic stress
      Tumor cells often display fundamental changes in metabolism and increase their uptake of nutrients to meet the increased bioenergetic demands of proliferation. Glucose and glutamine are two m...
      Speaker: Mei Kong, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      10
      OCT 29, 2014 | 1:30 PM
      PDX Tumor Models for Oncology Research and Preclinical Prediction
      PDX Tumor Models for Oncology Research and Preclinical Prediction
      Patient-derived xenograft (PDX) models can recapitulate patient tumor histopathology, mutational status, gene expression patterns, and drug response with remarkable fidelity. At The Jackson L...
      Speaker: Walter Ausserer, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      50
      SEP 24, 2014 | 6:00 AM
      Translational Medicine for Rare Disease: Lessons from Duchenne Muscular Dystrophy
      Translational Medicine for Rare Disease: Lessons from Duchenne...
      Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
      Speaker: Susan Ward, PhD
      Presented at: Advances in Drug Discovery and Development
      14
      SEP 16, 2014 | 9:30 AM
      Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway as a novel therapeutic opportunity in multiple cancer types
      Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway...
      Late-stage drug attrition rates in oncology remain higher than in other therapeutic areas. To reduce attrition, it is critical to identify appropriate drug targets and pre-clinical models. Th...
      Speaker: Nickolay Khazanov, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Informing end-to-end cancer drug development with bioinformatics
      18
      SEP 10, 2014 | 10:00 AM
      NGS Lessons in Translational Diagnostics
      NGS Lessons in Translational Diagnostics
      In this webinar, we will describe a comprehensive approach for NGS-based marker discovery and the successful migration of these markers to targeted NGS assays using low-quality (FFPE) and low...
      Speaker: Gary Latham Ph.D. and Brian Haynes, Ph.D.
      Sponsored By: Asuragen, Asuragen
      48
      AUG 21, 2014 | 9:45 AM
      Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
      Pathway based analyses for genetic susceptibility to cancer and...
      In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      62
      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 | 10:45 AM
      OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
      OncoScan Assay for copy number from FFPE. Publications & cases...
      A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
      Speaker: Padma Sundar, MBA, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2014
      14
    SEP 09, 2015 | 9:00 AM
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
    DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
    Speaker: A. John Iafrate, MD, PhD
    Sponsored By: Archer DX, Archer DX
    7 1
    JUN 17, 2015 | 8:00 AM
    Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
    Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
    DATE: June 17th, 2015TIME: 8am Pacific time, 11am Eastern timeSpatial heterogeneity of tumors has been identified within and between metastatic lesions and can be visualized wit...
    Speaker: Mark Landers
    Sponsored By: Epic Sciences, Epic Sciences
    15 2
    JUN 10, 2015 | 2:00 PM
    Personalized medicine
    Personalized medicine
    Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
    Speaker: Stephen Lyle, MD, PhD
    Presented at: Cardinal Health labXchange
    Sponsored By: Cardinal Healthâ„¢ OptiFreight® Logistics
    2
    MAY 14, 2015 | 1:30 PM
    Germline Cancer Genetics in 2015
    Germline Cancer Genetics in 2015
    Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
    Speaker: Judy E Garber, MD, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
    MAY 14, 2015 | 10:30 AM
    Deep mutational scanning to measure the impact of mutations in proteins on the molecular and organismal level
    Deep mutational scanning to measure the impact of mutations in...
    Deep mutational scanning is a method that marries selection for protein function amongst a large library of protein variants with high-throughput DNA sequencing to measure the activity of hun...
    Speaker: Douglas Fowler, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    2
     
     
  • MAY 14, 2015 | 6:00 AM
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Genetics and Genomics Virtual Event Series 2015
    3
    MAY 13, 2015 | 3:00 PM
    Population genomics of sex chromosome evolution
    Population genomics of sex chromosome evolution
    There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
    Speaker: Melissa A Wilson Sayres, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    0
    MAY 13, 2015 | 1:30 PM
    Epigenomics of common, rare, and somatic variants underlying disease and cancer
    Epigenomics of common, rare, and somatic variants underlying disease...
    Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
    Speaker: Manolis Kellis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
    JAN 21, 2015 | 10:00 PM
    NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics (AFAâ„¢)
    NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics...
     In this presentation we will illustrate the advantages of AFA technology in clinically significant applications (NGS, FFPE, ChIP) and will demonstrate the flexibility of Covaris AFA in deliv...
    Speaker: Hamid Khoja Ph.D.
    Sponsored By: Covaris, Inc., Covaris, Inc.
    8
    OCT 30, 2014 | 3:00 PM
    Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target Research/Discovery
    Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target...
    Mass spectrometry (MS)-based profiling of clinical specimens has been increasingly used in cancer research to characterize changes in protein expression between tumor and healthy tissue or be...
    Speaker: Josip Blonder, MD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    30
     
     
  • OCT 30, 2014 | 3:00 PM
    Probing cancer metabolism using isotope tracers to identify therapeutic targets
    Probing cancer metabolism using isotope tracers to identify therapeutic...
    Oncogenic mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) compromise their normal activity and induce NADPH-dependent (D)2-hydroxyglutarate (2HG) production within the cytosol or m...
    Speaker: Christian Metallo, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 1:30 PM
    Structural Pathways of Cancer
    Structural Pathways of Cancer
    Structural pathways are important. They are essential to the understanding of how oncogenic mutations work and to figuring out alternative parallel pathways in drug resistant mutants. Structu...
    Speaker: Ruth Nussinov, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 10:30 AM
    Genomics in the Clinic: Promises and Challenges
    Genomics in the Clinic: Promises and Challenges
    Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
    Speaker: John Carpten, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    12
    OCT 30, 2014 | 9:00 AM
    A head-to-head comparison of whole blood derived samples (cfDNA vs CTC DNA) for cancer research using next-generation sequencing
    A head-to-head comparison of whole blood derived samples (cfDNA...
    Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
    Speaker: Paul W. Dempsey, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
    OCT 30, 2014 | 6:00 AM
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
    When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
    Speaker: Kristin Landis-Piwowar, PhD, MLS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    8
     
     
  • OCT 29, 2014 | 3:00 PM
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
    Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
    Speaker: Peter Blume-Jensen, MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
    OCT 29, 2014 | 1:30 PM
    Protein phosphatase 2A in cell survival upon metabolic stress
    Protein phosphatase 2A in cell survival upon metabolic stress
    Tumor cells often display fundamental changes in metabolism and increase their uptake of nutrients to meet the increased bioenergetic demands of proliferation. Glucose and glutamine are two m...
    Speaker: Mei Kong, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    10
    OCT 29, 2014 | 1:30 PM
    PDX Tumor Models for Oncology Research and Preclinical Prediction
    PDX Tumor Models for Oncology Research and Preclinical Prediction
    Patient-derived xenograft (PDX) models can recapitulate patient tumor histopathology, mutational status, gene expression patterns, and drug response with remarkable fidelity. At The Jackson L...
    Speaker: Walter Ausserer, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    50
    SEP 24, 2014 | 6:00 AM
    Translational Medicine for Rare Disease: Lessons from Duchenne Muscular Dystrophy
    Translational Medicine for Rare Disease: Lessons from Duchenne...
    Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
    Speaker: Susan Ward, PhD
    Presented at: Advances in Drug Discovery and Development
    14
    SEP 16, 2014 | 9:30 AM
    Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway as a novel therapeutic opportunity in multiple cancer types
    Analysis of Oncomine Knowledgebase to identify NFE2L2 pathway...
    Late-stage drug attrition rates in oncology remain higher than in other therapeutic areas. To reduce attrition, it is critical to identify appropriate drug targets and pre-clinical models. Th...
    Speaker: Nickolay Khazanov, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Informing end-to-end cancer drug development with bioinformatics
    18
     
     
  • SEP 10, 2014 | 10:00 AM
    NGS Lessons in Translational Diagnostics
    NGS Lessons in Translational Diagnostics
    In this webinar, we will describe a comprehensive approach for NGS-based marker discovery and the successful migration of these markers to targeted NGS assays using low-quality (FFPE) and low...
    Speaker: Gary Latham Ph.D. and Brian Haynes, Ph.D.
    Sponsored By: Asuragen, Asuragen
    48
    AUG 21, 2014 | 9:45 AM
    Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
    Pathway based analyses for genetic susceptibility to cancer and...
    In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    62
    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 | 10:45 AM
    OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
    OncoScan Assay for copy number from FFPE. Publications & cases...
    A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
    Speaker: Padma Sundar, MBA, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2014
    14
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